OUR PATIENTS
MAJOR DISEASES
WE FOCUS ON TREATING
At Saher Welfare Foundation, we understand the profound impact that major diseases can have on individuals and their communities. That’s why we prioritize the treatment and prevention of a range of critical health concerns. Our dedicated medical team is equipped to address a spectrum of conditions, including but not limited to:
Burkitt's leukemia
Lymphoma is a blood cancer that affects B lymphocytes and how well a person can fight infections. Although people worldwide can develop Burkitt’s lymphoma, it primarily affects children living in sub-Saharan Africa. Doctors have found links between Burkitt’s lymphoma and the Epstein-Barr virus (EBV) and chronic malaria.
In the United States, Burkitt’s lymphoma typically occurs when someone has a compromised immune system.
This article will explore Burkitt’s leukemia and how it differs from Burkitt’s lymphoma. It will also look at the potential symptoms and treatment options.
“Burkitt’s leukemia” is, for the most part, interchangeable with Trusted Source “Burkitt’s lymphoma.”
However, according to one 2008 case study, doctors use the term Burkitt’s leukemia to signify that bone marrow contains 20% or moreTrusted Source malignant Burkitt’s cells.
Lymphoma is a type of cancer that affects the white blood cells, or lymphocytes. There are three types of lymphocytes:
- B lymphocytes (B cells)
- T lymphocytes (T cells)
- natural killer cells
Burkitt’s lymphoma is an aggressive form of lymphoma that attacks the B cells and grows rapidly. In fact, the doubling time of Burkitt’s lymphoma is just 25 hours, according to the case study above.
Intensive chemotherapy is the most common treatment option for Burkitt’s lymphoma, and it is often successful in both children and adults.
Types of Burkitt’s leukemia
There are three types of Burkitt’s lymphoma, which can arise from B cells at different stages of development. They are:
- endemic
- sporadic
- immunodeficiency-associated
Endemic Burkitt’s lymphoma occurs most often in Africa, where it is associated with chronic malaria and EBV. It usually occurs in children aged 4–7 years. Endemic Burkitt’s lymphoma involves the jaw and other facial bones and has less involvement with abdominal organs.
Sporadic Burkitt’s lymphoma usually affects the abdomen, particularly the ileocecal area, which is where the small intestine turns into the large intestine. Sporadic Burkitt’s lymphoma may also involve other sites, such as the:
- layers of the membrane surrounding the abdominal organs, or the omentum
- ovaries
- breasts
- kidneys
- tonsils, adenoids, and other lymphoid tissue
Sporadic Burkitt’s lymphoma occurs worldwide. In the U.S., it is responsible for 1–2%Trusted Source of all adult lymphoma cases and 40% of cases in children.
Immunodeficiency-associated Burkitt’s lymphoma occurs primarily in people with HIV, individuals with congenital immunodeficiency, and allograft recipients.
Symptoms
Symptoms of Burkitt’s lymphoma include:
- swollen lymph nodes in the neck, armpit, or groin
- fever
- night sweats
- nausea
- vomiting
- pain in the abdomen
- unexplained weight loss
If lymphoma affects the bone marrow, it can trigger:
- a pale appearance
- bruising
- fatigue
- bone pain
- a higher risk of infection
- a higher risk of bleeding
Causes
EBV has shown a strong association with Burkitt’s lymphoma. EBV is a member of the herpes virus family, and it is one of the most commonTrusted Source human viruses.
Once an individual has EBV, it remains dormant inside their body and can reactivate. EBV is contagious and most commonly spreads through bodily fluids, especially saliva.
According to the Leukaemia Foundation, endemic Burkitt’s lymphoma is associated with EBV in nearly every case. In sporadic Burkitt’s lymphoma, EBV is present in approximately 30% of cases. EBV is also present in 40% of immunodeficiency-associated cases.
Children are more likely to have Burkitt’s lymphoma than adults. It accounts for up to 30% of children’s non-Hodgkin lymphomas and 1% of adult lymphomas, says the Leukaemia Foundation.
Children typically receive a Burkitt’s lymphoma diagnosis around the age of 5–10 years, while adults usually receive a diagnosis at around age 30–50 years. Burkitt’s lymphoma is also four times more common in males than in females.
Diagnosis
Doctors usually need to conduct different tests before they can make a diagnosis of Burkitt’s lymphoma and Burkitt’s leukemia.
For example, they may perform a bone marrow or lymph node biopsy to inspect cells under a microscope.
Doctors may also check whether or not lymphoma has developed in other areas of the body using:
- physical examinations to check for lumps
- blood tests
- CT scans and MRI scans
- a lumbar puncture, if there is a concern that there may be lymphoma cells in the spinal fluid
Bernard — Soulier syndrome
Bernard-Soulier syndrome (BSS) is a rare-inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily. Most cases of Bernard-Soulier syndrome are inherited in an autosomal recessive genetic pattern.
Signs & Symptoms
The symptoms of Bernard-Soulier syndrome, which are typically apparent at birth and continue throughout life, may include the tendency to bleed excessively from cuts and other injuries, nosebleeds (epistaxis), and/or an unusually heavy menstrual flow in women. Some babies and children with BSS have no symptoms and the disorder does not present until adult life. People with this disease also bruise easily and the bruises tend to linger. Bleeding from very small blood vessels under the skin (subcutaneous) may cause small or widespread areas of small red or purple colored spots (purpura or petechiae).
Causes
BSS is a genetic disorder that affects the ability of the platelets in the circulating blood to bind with a damaged blood vessel and hence to clot blood. These platelets are missing an essential protein called the glycoprotein Ib-IX-V complex (GPIb). The Gp1b complex is composed of 4 protein subunits that bind closely together (GP1b-alpha, GP1b-beta, GP9 and GP5). BSS is caused by mutations in one of the Gp1b complex genes- so far mutations have been found in BP1b-alpha, Gp1b-beta and GP9 but no mutations have been found in GP5. Normally the GP1b complex sticks out of the platelet’s surface and binds with another protein found in the circulating blood called von Willebrand factor. If one of these proteins is missing or abnormal, they cannot bind correctly to begin the clotting process and excessive bleeding results.
Bernard-Soulier syndrome is usually inherited in an autosomal recessive genetic pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Diagnosis
The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is able to measure the level of expression of the missing protein ion the outside of platelets affected by Bernard-Soulier syndrome. In recent years, most families are offered molecular genetic testing to identify which gene carries the mutations.
Treatment
Platelet transfusion is used to treat Bernard-Soulier syndrome when surgery is necessary or when there is a risk for life-threatening hemorrhage. Some patients with Bernard-Soulier syndrome become resistant (refractory) to platelet transfusions because they develop antibodies against the GPIb protein- to reduce this risk it is now recommended that specially selected platelet transfusions (from HLA-matched single donors) should be used. Where HLA-matched platelets are not available, leucocyte-depleted platelets can be used (these are platelet transfusions from which contaminating white blood cells-leucocytes- have been removed). People with this disorder should not take aspirin or other related drugs because these medications affect the blood’s ability to clot (platelet aggregation). It is suggested that acetaminophen, which is present in medications such as Tylenol, is used for the relief of mild pain. Antifibrinolytic agents (drugs which delay the breakdown of blood clots) are often useful to help reduce bleeding after minor surgery (eg dental surgery) or for prolonged nosebleeds. The most commonly used antifibrinolytic drug is tranexamic acid (also known as epsilon aminocaproic acid).
Genetic counseling is recommended for people with Bernard-Soulier syndrome and their families. Other treatment is symptomatic and supportive.
Myelodysplasia Syndromes(MDS)
Myelodysplastic syndromes (MDS) are a rare group of blood disorders that occur as a result of disordered development of blood cells within the bone marrow. The three main types of blood elements (i.e., red blood cells, white blood cells and platelets) are affected. Red blood cells deliver oxygen to the body, white blood cells help fight infections, and platelets assist in clotting to stop blood loss. In MDS, dysfunctional blood cells fail to develop normally and enter the bloodstream. As a result, individuals with MDS generally have abnormally low blood cell levels (low blood counts). General symptoms associated with MDS include fatigue, dizziness, weakness, bruising and bleeding, frequent infections, and headaches. In some affected individuals, MDS may progress to life-threatening failure of the bone marrow or develop into acute leukemia. The exact cause of MDS is unknown but genetics and certain chemotherapeutic drugs or toxic exposures in the environment may play a part.
Signs & Symptoms
The symptoms of MDS occur because the bone marrow fails to produce enough functioning blood cells. The specific symptoms and progression of the disorder vary greatly from person to person. Some individuals may have mild symptoms that remain stable for many years; others may rapidly develop serious symptoms that can progress to life-threatening complications.
The bone marrow, occupies the spongy center of large bones of the body. Blood cells, produced in the red marrow, are released into the bloodstream to travel throughout the body performing their specific functions. In individuals with MDS, the bone marrow develops immature or defective versions of red cells white cells and platelets, some of which are destroyed within the bone marrow. In the process, healthy marrow cells are progressively eliminated. The consequence is a lack of healthy blood cells in the bloodstream and a reduced supply of MDS blood cells, causing symptoms associated with MDS.
The most common symptom in individuals with MDS is fatigue due to low levels of circulating red blood cells. Anemia causes tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, palpitations, headaches, and pale skin color. Low levels of white blood cells (neutropenia) increase the risk of contracting bacterial and fungal infections. Low levels of platelets (thrombocytopenia) makes the individual more susceptible to excessive bruising following minimal injury and spontaneous bleeding from the gums and nose. Women may develop increased menstrual blood loss. Bleeding may also occur in the digestive tube causing blood loss in the stools. Sometimes the bleeding occurs as a scattered red rash chiefly on the limbs–so-called petechial hemorrhages.
MDS has a tendency to get worse with time as the normal bone marrow function dwindles. The pace of progression varies. In some individuals the condition worsens within a few months of diagnosis, while others have relatively little problem for several decades. In about 50 percent of cases, MDS deteriorates into a form of cancer known as acute myeloid leukemia (AML). The transition to leukemia is accompanied by worsening marrow function and the accumulation, first in the marrow and subsequently in the blood, of undeveloped immature cells called blasts which have no useful function and suppress any remaining marrow cell production. As a consequence, the complications from anemia, bleeding, and infection become life-threatening. Because some cases of MDS may progress into leukemia, myelodysplastic syndromes have also been known as pre-leukemia and smoldering leukemia. Patients who do not progress to leukemia may experience a gradual fall-off in marrow function leading to worsening anemia bleeding and infection which despite transfusions of red cells and platelets and antibiotics to treat infection can ultimately be fatal.
MDS is sub-classified according to the type and number of blasts in the bone marrow. A group of French, American and British hematologists created the so-called FAB classification. This classification describes five MDS subtypes: refractory anemia; refractory anemia with sideroblasts; refractory anemia with excess blasts; refractory anemia with excess blasts in transformation; and chronic myelomonocytic leukemia. The first two types are the most common forms of myelodysplastic syndromes and are also the most stable.
The World Health Organization (WHO) released its own classification system for MDS that modifies the FAB classification system, using different terms for the MDS subtypes. The new system has been universally accepted. For more information on the WHO system, contact the World Health Organization listed in the Resources section below.
Causes
When the cause of MDS is unknown it is called idiopathic MDS. A so-called secondary MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases. It is possible that some chemicals (pesticides and benzene), cigarette smoking, and possibly viral infections can predispose to MDS. However, these links are circumstantial and in the majority of individuals developing MDS no obvious connection with environmental hazards can be found. MDS sometimes runs in families, suggesting a genetic link with the disease, particularly in younger patients with this disease.
Diagnosis
A diagnosis of myelodysplastic syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including complete blood counts, examination of the blood smear and bone marrow aspiration and biopsy. A complete blood count measures the number of red and white blood cells and platelets in the body. The blood smear and the small sample of bone marrow removed via a needle (the aspirate) is examined under a microscope to evaluate for the characteristic features of MDS. Chromosome analysis is helpful for diagnostic and prognostic purposes as is a blood test determining the presence of certain mutations (changes) within the blood cells.
Treatment
Treatment varies, depending upon the individual’s age, general health, prognostic risk status, specific cytopenia (low blood count) and subtype of MDS. The first aim of treatment is supportive care – giving red cell transfusions to correct anemia, platelet transfusions to treat or prevent serious bleeding, and antibiotics to treat or prevent infections.
A consequence of multiple red cell transfusions of red cells is the accumulation of iron derived from red cell hemoglobin being broken down in the body. Too much build-up of iron can lead to complications which can be avoided by treatment with drugs that bind the iron and eliminate it from the body. In 2005, the drug Exjade (desferasirox) given in tablet form was approved by the U.S. Food and Drug Administration (FDA) for marketing for the treatment of some MDS individuals who have been transfused for many years and have dangerous build-up of iron in the body.
Further treatment aims, where possible, to correct the bone marrow failure. The marrow failure in some patients responds to immunosuppressive treatment with an agent called antithymocyte globulin (ATG). This can sometimes restore the blood count to normal indefinitely and can be repeated if relapses occur. The same treatment is used with success to treat aplastic anemia. Younger patients with the refractory anemia MDS subtype respond best to ATG.
Growth factors are substances normally found in the body that control production of blood cells. They include Neupogen (filgrastim granulocyte-colony stimulating factor [G-CFS]) and Procrit or Epogen (erythropoietin). These growth factors stimulate the production of red white cells and red cells (but not platelets) in MDS. Given by daily to weekly injection, according to blood count severity, these marrow stimulators can be very helpful in some patients.
Replacement of the MDS bone marrow with that of a healthy donor is the only curative treatment for MDS. Patients who are relatively fit even into their 70s may be suitable for a bone marrow stem cell transplant (SCT) from a healthy related donor or an unrelated volunteer. Although SCT can cure MDS this success is offset by the mortality from the transplant. SCT is therefore only performed in selected patients and in specialized centers. Many centers throughout the United States perform marrow stem cell transplants for MDS. For more information, contact the International Bone Marrow Transplant Registry (IBMTR) in Milwaukee (see Resources section).
In the bone marrow, immature cells known as stem cells and myeloblasts develop through cell divisions into the mature healthy cells that populate the bloodstream, a process known as differentiation. In MDS the marrow cells fail to differentiate normally. Certain drugs including Vidaza (5-azacytidine) and Dacogen (decitabine) may correct the problem and improve blood cell production in MDS. Clinical studies have demonstrated the effectiveness of these agents. These drugs were approved in 2004 by the FDA for treatment of MDS. These drugs can delay progression of MDS and prolong survival, but may cause a temporary drop in blood counts during the treatment period requiring dose adjustments.
In 2005, the FDA approved the drug Revlimid (lenalidomide) for the treatment of patients with a subtype of myelodysplastic syndrome. The subtype is MDS patients with deletion 5q cytogenetic abnormality. Revlimid is structurally similar to thalidomide, a drug known to cause severe birth defects. Additional studies are ongoing in animals to address whether there is a risk that Revlimid will also cause birth defects when taken during pregnancy. While these studies are underway, Revlimid is being marketed under a risk management plan called RevAssist, designed to prevent fetal exposure. Under RevAssist, only pharmacists and prescribers registered with the program will prescribe and dispense Revlimid.
Most recently, in 2020, FDA approved Inqovi (decitabine and cedazuridine) to treat adult patients with MDS. Inqovi is the first therapy for MDS patients that does not require them to go into a treatment facility to receive intravenous (IV) treatment.
Glanzmann's Thrombasthenia
Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder usually include abnormal bleeding, which may be severe. Prolonged untreated or unsuccessfully treated hemorrhaging associated with Glanzmann thrombasthenia may be life threatening.
Signs & Symptoms
The symptoms of Glanzmann thrombasthenia usually begin at birth or shortly thereafter and include the tendency to bruise and bleed easily and sometimes profusely, especially after surgical procedures. Other symptoms may include susceptibility to easy bruising, nosebleeds (epistaxis), bleeding from the gums (gingival), intermittent gastrointestinal bleeding and/or variably small or large red or purple-colored spots on the skin that are caused by bleeding in the skin (purpura). Women with GT often also have unusually heavy menstrual bleeding, irregular uterine bleeding and excess bleeding in childbirth. Rarely, gastrointestinal bleeding and blood in the urine (hematuria) can occur. The severity of the symptoms varies greatly. Some affected individuals have mild bruising and others have severe hemorrhages that can be life threatening.
Causes
Glanzmann thrombasthenia is inherited in an autosomal recessive pattern. An abnormality in either the gene for aIIb (glycoprotein IIb; GPIIb) or the gene for β3 (glycoprotein IIIa; GPIIIa) results in an abnormal platelet aIIbβ3 (GPIIb/IIIa) integrin family receptor and prevents platelets from forming a plug when bleeding occurs. Many different changes (mutations or variants) in these genes have been identified. Recent evidence suggests that approximately 0.5% of healthy individuals in the general population are probably carrying one gene with an abnormal (pathogenic) variant of αIIb or β3.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits an abnormal variant of a gene from each parent. If an individual receives one normal gene and one abnormal variant gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. This is true for carriers of Glanzmann thrombasthenia. The risk for two carrier parents to both pass the abnormal gene variant and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive the normal genes from both parents is 25%. The risk is the same for males and females.
Diagnosis
Most individuals affected with Glanzmann thrombasthenia have a normal number of platelets but have a prolonged bleeding time, which means it takes longer than usual for a standardized cut to stop bleeding. Platelet aggregation studies are abnormal and show that platelets are not able to clump together when stimulated as they should to form platelet aggregates. Glanzmann thrombasthenia is definitively diagnosed by tests that determine if there is a deficiency of the αIIbβ3 (GPIIb/IIIa) receptor. These tests usually involve monoclonal antibodies and flow cytometry. Genetic tests can identify the abnormal gene variants responsible for the disorder in the genes ITGA2B and ITGB3.
Carrier and prenatal testing by DNA analysis is possible if the specific gene variants been identified in an affected family member. Otherwise, prenatal testing can be performed based on analyzing platelet αIIbβ3 in the fetus.
Treatment
Some individuals with GT may require blood platelet transfusions. Since transfusions may continue to be necessary throughout life, affected individuals may benefit from transfusions from HLA-matched donors. Some patients develop antibodies to transfused platelets and these antibodies may diminish the benefit from subsequent platelet transfusions.
In 2014, NovoSeven RT, a recombinant factor VIIa product, was approved to treat Glanzmann thrombasthenia. This medication is indicated to treat bleeding episodes and perioperative management when platelet transfusions are not effective. Treatment is usually given prior to most surgical procedures or should be available if needed. Platelet transfusions are usually necessary prior to delivery.
Nosebleeds can usually be treated with nasal packing or application of foam soaked in thrombin. Regular dental care is important to prevent bleeding from the gums.
Hormonal therapy can be used to suppress menstrual periods.
Other treatment of GT is included use of antifibrinolytic agents alone or in combination with other therapies.
Genetic counseling is recommended for people with GT and their families.
Acute Lymphoblastic Leukemia
Acute lymphoblastic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). It may develop in children or adults. ALL spreads to the blood fairly quickly, and then may spread to other areas of the body such as the lymph nodes, liver, spleen, central nervous system, and testicles (in males). Signs and symptoms of ALL may include fever, easy bruising or bleeding, feeling tired, loss of appetite, pain in the bones or abdomen, and painless lumps in the neck, underarm, stomach, or groin.
ALL is typically caused by random, non-inherited changes in the DNA of immature lymphocytes called lymphoblasts However, some people may inherit a genetic susceptibility to developing ALL.The risk to develop ALL may also be increased by past treatment for cancer, and by having certain genetic conditions or syndromes. Having one or more risk factors does not mean that a person definitely will develop ALL.
Treatment of ALL depends on the person’s age, how advanced the cancer is, and whether certain genetic changes are found in cancer cells. Treatment options may involve systemic and/or intrathecal chemotherapy, radiation therapy, targeted therapy, and/or a stem cell transplant. Biologic therapy and chimeric antigen receptor (CAR) T-cell therapy are currently being studied as treatment options and may be used when other therapies are not working.[14010][14011]
The chance of recovery also depends on many factors.[14010][14011] With treatment, about 98% of children with ALL go into remission, and 85% of those with first-time ALL are expected have no long-term complications. The chance of recovery for adults is not as high, as 20-40% of adults are cured with current treatments.[
Signs & Symptoms
The early signs and symptoms of ALL may be like the flu or other common diseases. Check with your doctor if you have any of the following:
- Weakness or feeling tired.
- Fever or drenching night sweats.
- Easy bruising or bleeding.
- Petechial (flat, pinpoint spots under the skin, caused by bleeding).
- Shortness of breath.
- Weight loss or loss of appetite.
- Pain in the bones or stomach.
- Pain or feeling of fullness below the ribs.
- Painless lumps in the neck, underarm, stomach, or groin.
- Having many infections.
Causes
Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell.
A myeloid stem cell becomes one of three types of mature blood cells:
- Red blood cells that carry oxygen and other substances to all tissues of the body.
- Platelets that form blood clots to stop bleeding.
- Granulocytes (white blood cells) that fight infection and disease.
A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells):
- B lymphocytes that make antibodies to help fight infection.
- T lymphocytes that help B lymphocytes make the antibodies that help fight infection.
- Natural killer cells that attack cancer cells and viruses.
Diagnosis
In addition to asking about your personal and family health history and doing a physical exam, your doctor may perform the following tests and procedures:
- Complete blood count (CBC) with differential: A procedure in which a sample of blood is drawn and checked for the following:
- The number of red blood cells and platelets.
- The number and type of white blood cells.
- The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.
- The portion of the blood sample made up of red blood cells.
Treatment
- There are different types of treatment for patients with adult acute lymphoblastic leukemia (ALL).
- The treatment of adult ALL usually has two phases.
- The following types of treatment are used:
- Chemotherapy
- Radiation therapy
- Chemotherapy with stem cell transplant
- Targeted therapy
- New types of treatment are being tested in clinical trials.
- Immunotherapy
- Patients may want to think about taking part in a clinical trial.
- Patients can enter clinical trials before, during, or after starting their cancer treatment.
- Treatment for adult acute lymphoblastic leukemia may cause side effects.
- Follow-up tests may be needed.
Thalassemia Major
Thalassemia is a term for a group of disorders in which there is reduced levels of hemoglobin, decreased red blood cell production and anemia. There are two main forms – alpha thalassemia and beta thalassemia, each with various subtypes. Beta thalassemia minor, also known as beta thalassemia trait, is a common condition. Beta thalassemia major was first described in the medical literature in 1925 by an American physician – Thomas Cooley. Beta thalassemia major is also known as Cooley’s anemia. Today, the classic clinical picture of beta thalassemia major is rarely seen when treatment is initiated early and regularly for the condition. Because of the anemia and the need for transfusions, thalassemia is now described as either transfusion dependent thalassemia (TDT) or non-transfusion dependent thalassemia (NTDT) rather than minor, intermedia or major.
Signs & Symptoms
The symptoms and severity of beta thalassemia varies greatly from one person to another. Individuals with beta thalassemia minor do not develop symptoms of the disorder but may have a mild anemia. Many individuals with beta thalassemia minor go through life never knowing they carry an altered gene for the disorder.
A beta thalassemia major diagnosis is usually made during the first two years of life and individuals require regular blood transfusions and lifelong medical care to survive. When the disorder develops later during life, a diagnosis of beta thalassemia intermedia is given; individuals may only require blood transfusions on rare, specific instances.
BETA THALASSEMIA MAJOR
Beta thalassemia major, also known as Cooley’s anemia, is the most severe form of beta thalassemia. Affected infants exhibit symptoms within the first two years of life, often between 3 and 6 months after birth. The full or classic “description” of beta thalassemia major tends to primarily occur in developing countries. Most individuals will not develop the severe symptoms discussed below. Although beta thalassemia major is a chronic, lifelong illness, if individuals follow the current recommended treatments, most individuals can live happy, fulfilling lives.
Severe anemia develops and is associated with fatigue, weakness, shortness of breath, dizziness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). Affected infants often fail to grow and gain weight as expected based upon age and gender (failure to thrive). Some infants become progressively pale (pallor). Feeding problems, diarrhea, irritability or fussiness, recurrent fevers, abnormal enlargement of the liver (hepatomegaly), and the abnormal enlargement of the spleen (splenomegaly) may also occur.
Splenomegaly may cause abdominal enlargement or swelling. Splenomegaly may be associated with an overactive spleen (hypersplenism), a condition that can develops because too many blood cells build up and are destroyed within the spleen. Hypersplenism can contribute to anemia in individuals with beta thalassemia and cause low levels of white blood cells, increasing the risk of infection, and low levels of platelets, which can lead to prolonged bleeding.
If untreated, additional complications can develop. Beta thalassemia major can cause the bone marrow, the spongy material within certain bones, to expand. Bone marrow is where most of the blood cells are produced in the body. The bone marrow expands because it is trying to compensate for chronic anemia. This abnormal expansion causes bones to become thinner, wider and brittle. Affected bones may grow abnormally (bone deformities), particularly the long bones of the arms and legs and certain bones of the face. When facial bones are affected it can result in distinctive facial features including an abnormally prominent forehead (frontal bossing), full cheek bones (prominent malar eminence), a depressed bridge of the nose, and overgrowth (hypertrophy) of the upper jaw (maxillae), exposing the upper teeth. The affected bones have an increased fracture risk, particularly the long bones of the arms and legs. Some individuals may develop ‘knock knees’ (genu valgum), a condition in which the legs bend inward so that when a person is standing the knees will touch even if the ankles and feet are not.
Even when treated, complications may develop, specifically the buildup of iron in the body (iron overload). Iron overload results from the blood transfusions required to treat individuals with beta thalassemia major. In addition, affected individuals experience greater iron absorption from the gastrointestinal tract, which contributes to iron overload (although this primarily occurs in untreated individuals). Iron overload can cause tissue damage and impaired function of affected organs such as the heart, liver and endocrine glands. Iron overload can damage the heart causing abnormal heart rhythms, inflammation of the membrane (pericardium) that lines the heart (pericarditis), enlargement of the heart and disease of the heart muscle (dilated cardiomyopathy). Heart involvement can progress to life-threatening complications such as heart failure. Liver involvement can cause scarring and inflammation of the liver (cirrhosis) and high pressure of the main liver vein (portal hypertension). Endocrine gland involvement can cause insufficiency of certain glands such as the thyroid (hypothyroidism) and, in rare cases, diabetes mellitus. Iron overload can also be associated with growth retardation and the failure or delay of sexual maturation.
Additional symptoms that may occur include masses that form because of blood cell production outside of the bone marrow (extramedullary hematopoiesis). These masses primarily form in the spleen, liver, lymph nodes, chest, and spine and can potentially cause compression of nearby structures and a variety of symptoms. Affected individuals may develop leg ulcers, an increased risk of developing blood clots within a vein (venous thrombosis) and decreased bone mineralization resulting in brittle bones that are prone to fracture (osteoporosis).
BETA THALASSEMIA INTERMEDIA
Individuals diagnosed with beta thalassemia intermedia have a widely varied expression of the disorder. Moderately severe anemia is common and affected individuals may require periodic blood transfusions. Each individual case is unique. Common symptoms include pallor, jaundice, leg ulcers, gallstones (cholelithiasis), and abnormal enlargement of the liver and spleen. Moderate to severe skeletal malformations (as described in beta thalassemia major) may also occur.
DOMINANT BETA THALASSEMIA
Dominant beta thalassemia is an extremely rare form in which individuals who have one mutated HBB gene develop certain symptoms associated with beta thalassemia. Affected individuals may develop mild to moderate anemia, jaundice, and an abnormally enlarged spleen (splenomegaly).
Causes
Most beta thalassemia cases are caused by a mutation in the HBB gene. In extremely rare cases, a loss of genetic material (deletion) that includes the HBB gene causes the disorder. Genes provide instructions for creating proteins that play a critical role in many body functions. When a gene mutation occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Individuals with beta thalassemia minor have a mutation in one HBB gene and are carriers for the disorder. Individuals with beta thalassemia intermedia or major have mutations in both HBB genes.
Normal hemoglobin is made up of specialized proteins called globins, specifically two alpha chains and two beta chain proteins attached to a central heme ring. The HBB gene creates (encodes) beta globin protein chains. A mutation in one HBB gene results in either reduced or no production of beta chains from that gene. Regardless, the second (unaffected) copy of the HBB gene functions normally and produces enough beta chain protein to avoid symptoms, although red blood cells are still abnormally small and mild anemia can still develop. A mutation in two HBB genes results in either significantly reduced levels of beta chains (beta thalassemia intermedia) or an almost complete lack of beta chains (beta thalassemia major). The reduction or lack of beta globin protein chains leads to an imbalance with the normally-produced alpha globin protein chains and, ultimately, the defective formation of red blood cells, a lack of functional hemoglobin, and the failure to deliver sufficient amounts of oxygen to the body.
In individuals with dominant beta thalassemia, the mutated HBB gene creates (synthesizes) an extremely unstable type of hemoglobin. Affected individuals have ineffective red blood cell formation (erythropoiesis).
Researchers believe that additional factors influence the severity of beta thalassemia major and intermedia including modifier genes. Modifier genes, unlike the gene that causes beta thalassemia, affect the clinical severity of the disorder. More research is necessary to discover the various modifier genes associated with beta thalassemia and their role in the development of the disorder.
Beta thalassemia is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Diagnosis
A diagnosis of beta thalassemia is based upon identification of characteristic symptoms, a clinical evaluation and a variety of specialized tests. With beta thalassemia major, initial symptoms often become apparent during the first two years of life and include failure to thrive, a swollen abdomen and symptoms of anemia. Beta thalassemia intermedia may be suspected in individuals who present with similar (yet milder) symptoms, but at a later age.
In many states in the U.S., infants are diagnosed with a hemoglobin disorder through newborn screening. Newborn screening is a public health program that tests newborn infants for a variety of disorders that are treatable, but not readily apparent at birth. Each state’s newborn screening program (and the specific disorders tested for) is different.
Clinical Testing and Workup
Individuals suspected of having beta thalassemia will undergo blood tests such as a complete blood count (CBC). A CBC measures several components and aspects of blood including the number, concentration, size, shape and maturity of blood cells. A specialized blood test known as hemoglobin electrophoresis measures the different types of hemoglobin found in blood.
A CBC is done to measure the amount of hemoglobin and the number and the size and shape of red blood cells, which are fewer in number and smaller in size than in normal individuals. Red blood cells may also be pale in color (hypochromic) and of varying shapes (poikilocytosis). The distribution of hemoglobin in red blood cells in individuals with beta thalassemia is uneven, giving the cells a distinctive target appearance when viewed under a microscope. A blood sample can be tested to measure the amount of iron in the blood (ferritin), which is often elevated in individuals with beta thalassemia.
Molecular genetic testing can confirm a beta thalassemia diagnosis. Molecular genetic testing can detect mutations in the HBB gene known to cause the disorder but is available only as a diagnostic service at specialized laboratories. Molecular genetic testing is not necessary to make a diagnosis of beta thalassemia and is generally used to identify at-risk, asymptomatic relatives, to aid prenatal diagnosis and to attempt to predict the progression or severity of the disease in specific cases.
Treatment
Individuals with beta thalassemia major and intermedia will benefit from referral to a thalassemia treatment center. These specialized centers provide comprehensive care for individuals with beta thalassemia including the development of specific treatment plans, monitoring and follow up of affected individuals, and state-of-the-art medical care. Treatment at such a center ensures that individuals and their family members will be cared for by a professional healthcare team (physicians, nurses, physical therapists, social workers and genetic counselors) experienced in the treatment of individuals with beta thalassemia. Genetic counseling is recommended for affected individuals and their families. Psychosocial support for the entire family is essential as well.
Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as the specific type of beta thalassemia; the progression of the disease; the presence or absence of certain symptoms; severity of the disease upon diagnosis; an individual’s age and general health; and/or other factors. Decisions concerning the use of a particular drug regimen and/or other treatments should be made by physicians and other members of the health care team in consultation with the patient based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.
Individuals with beta thalassemia minor usually do not develop symptoms and do not require treatment. It is important that individuals with beta thalassemia minor be correctly diagnosed, however, in order to avoid unnecessary treatments for similarly appearing conditions such as iron deficiency anemia. These individuals should not routinely take iron supplements.
Individuals with beta thalassemia major require regular blood transfusions. A blood transfusion is a common procedure in which affected individuals receive donated blood to restore the levels of healthy, functioning hemoglobin to their blood. During this procedure, donated blood is delivered to the body through a small, plastic tube inserted into a blood vessel (intravenously). The procedure may take anywhere from 1-4 hours. Individuals with beta thalassemia major require regular blood transfusions, as frequently as every 2-4 weeks in severe cases. Individuals with beta thalassemia intermedia occasionally require blood transfusions such as when suffering from an illness or infection or when planning to undergo surgery.
In 2019, the U.S. Food and Drug Administration (FDA) approved Reblozyl (luspatercept-aamt) for the treatment of anemia in adult patients with beta thalassemia who require regular red blood cell transfusions. The medication reduces the need for regular blood transfusions but does not cure the condition.
Some individuals may be treated by the surgical removal of the spleen (splenectomy). An abnormally enlarged spleen (splenomegaly) can cause severe pain and contribute to anemia. Splenomegaly can cause low levels of the blood cells (platelets) that allow the blood to clot. An enlarged spleen in individuals with beta thalassemia may occur due to increased destruction of red blood cells, the formation of blood cells outside of the bone marrow (extramedullary hematopoiesis), repeated blood transfusions, or iron overload. If other forms of therapy fail, removal of the spleen may be considered. Splenectomy has led to improvement in certain symptoms associated with beta thalassemia. However, this surgical procedure carries risks, which are weighed against benefits in each individual case. Because of advances in the treatment of beta thalassemia in the past several years, splenectomy is rarely necessary as a treatment for affected individuals.
Individuals with beta thalassemia major and intermedia may develop iron overload, which occurs because of two reasons. First, blood transfusions cause the accumulation of excess iron in the body. Second, beta thalassemia can cause increased absorption of dietary iron by the gastrointestinal tract. The body has no normal way to remove excess iron. In individuals who receive regular blood transfusions, iron overload primarily occurs because of treatment. Iron overload causes a variety of symptoms affecting various body organ systems. Iron overload is treated by medications that remove excess iron from the body such as Ferriprox (deferiprone) and Exjade (deferasirox).
Treatment of additional complications of beta thalassemia or iron overload is symptomatic and supportive. Special attention is recommended for the early diagnosis and prompt treatment of heart (cardiac) disease potentially associated with iron overload. Cardiac disease is the main life-threatening complication in individuals with beta thalassemia.
Thalassemia minor
Thalassemia is an inherited blood disorder that affects your body’s ability to produce hemoglobin and healthy red blood cells. Types include alpha and beta thalassemia. Thalassemia may cause you to experience anemia-like symptoms that range from mild to severe. Treatment can consist of blood transfusions and iron chelation therapy.
Signs & Symptoms
Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these genes as the “code” or programming that controls each chain and (as a result) your hemoglobin. If any of these genes are defective or missing, you’ll have thalassemia.
- Alpha globin protein chains consist of four genes, two from each parent.
- Beta globin protein chains consist of two genes, one from each parent.
The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.
Causes
Missing three alpha genes (Hemoglobin H disease) often causes anemia symptoms at birth and leads to severe lifelong anemia. Beta thalassemia major (Cooley’s anemia) often leads to severe anemia symptoms noticeable by age 2.
Symptoms of severe anemia include those associated with mild to moderate disease. Additional symptoms may include:
- Poor appetite.
- Pale or yellowish skin (jaundice).
- Urine that’s dark or tea-colored.
- Irregular bone structure in your face.
Diagnosis
Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life.
Your healthcare provider may order various blood tests to diagnose thalassemia:
- A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.
- Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia.
- Hemoglobin electrophoresis is used to diagnose beta thalassemia.
- Genetic testing is used to diagnose alpha thalassemia.
Treatment
Standard treatments for thalassemia major are blood transfusions and iron chelation.
- A blood transfusion involves receiving injections of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. You’ll receive transfusions every four months with moderate or severe thalassemia, and with beta thalassemia major, every two to four weeks. Occasional transfusions may be needed (for instance, during times of infection) for hemoglobin H disease or beta thalassemia intermedia.
- Iron chelation involves the removal of excess iron from your body. A danger with blood transfusions is that they can cause iron overload. Too much iron may damage organs. If you receive frequent transfusions, you’ll receive iron chelation therapy (which you can take as a pill).
- Folic acid supplements can help your body make healthy blood cells.
- Bone marrow and stem cell transplant from a compatible related donor is the only treatment to cure thalassemia. Compatibility means the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant. Your healthcare provider will inject bone marrow stem cells from your donor into your bloodstream during the procedure. The transplanted cells will start to make new, healthy blood cells within one month.
- Luspatercept is an injection that’s given every three weeks and can help your body make more red blood cells. It’s approved in the U.S. for the treatment of transfusion-dependent beta thalassemia.
Hemophilia
Hemophilia is an inherited bleeding disorder when the blood does not clot as it should. This can result in spontaneous bleeding and bruising after surgery or other injuries. Signs of hemophilia include bruising easily, nosebleeds, and blood in urine or feces.
Signs & Symptoms
Common Trusted Source signs of hemophilia include:
- bruising
- hematomas, which is when there is bleeding into the muscle or soft tissues
- bleeding from the mouth and gums
- bleeding after a circumcision
- blood in the stool
- blood in the urine
- nosebleeds that are frequent and difficult to stop
- bleeding after vaccinations or other injections
- bleeding into the joints
According to the National Organization for Rare Disorders, the severity of hemophilia can also affect symptoms.
In mild cases, a person will most likely experience:
- spontaneous nose bleeds
- bleeding from the mouth or gums
- easy bruising or hematomas
- excessive bleeding following dental or other surgical procedures or injury
Symptoms for people living with the mild form may not show until adulthood.
In moderate cases of hemophilia, a person may experience:
- easy and excessive bruising
- excessive bleeding following surgeries or trauma
Doctors can often diagnose moderate cases by the time the person is 5 or 6.
In severe cases of hemophilia, a person may experience spontaneous bleeding, often in the muscles or joints. This can lead to pain and swelling.
Without treatment, it can result in arthritis in the affected joints. Doctors can often diagnose severe cases when the person is an infant.
Causes
Another genetic disorder that causes frequent bleeding is von Willebrand disease (vWD). It causes bleeding episodes such as nosebleeds, bleeding gums, and excessive menstrual periods.
According to the CDC Trusted Source, vWD affects around 1% of the American population.
The condition affects every sex equally. However, females are more likely to develop symptoms. This is because people with a menstrual cycle may notice heavier or abnormal bleeding during menstrual periods, childbirth, or post-childbirth.
Diagnosis
Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life.
Your healthcare provider may order various blood tests to diagnose thalassemia:
- A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.
- Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia.
- Hemoglobin electrophoresis is used to diagnose beta thalassemia.
- Genetic testing is used to diagnose alpha thalassemia.
Treatment
In 2018, the Food and Drug Administration Trusted Source approved a medication called emicizumab-kxwh. This is intended to reduce or prevent the frequency of bleeding episodes in those with hemophilia A, with or without factor VIII inhibitors. A doctor can administer this medication as an injection under the skin.
Initially, a person will receive a dose of 3 mg/kg once a week for 4 weeks. After that, they can receive maintenance injections every 1–4 weeks, depending on the dosage.
Other hemophilia A treatments include desmopressin, a manufactured hormone that stimulates the release of stored factor VIII, and antifibrinolytic medications, which prevent clots from breaking down.
Doctors may prescribe one of several medications for people living with hemophilia B that replace Factor IX, such as Rixubis or Rebinyn.
Complications from treatment of hemophilia may occur. They can include developing antibodies to treatments and viral infections from human clotting factors.
Treatment can also cause blood clots.
Getting treatment as soon as possible is important to help reduce the risk of damage to joints, muscles, and other body parts.
Pure Red Cell Aplasia
Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons (idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur secondary to a tumor of the thymus gland (thyoma), viral infections, or certain drugs.
Signs & Symptoms
Symptoms of the following disorders are similar to those of Acquired Pure Red Cell Aplasia. Comparisons may be useful for a differential diagnosis:
Aplastic Anemia is characterized by failure of the bone marrow to produce red blood cells, white blood cells and platelets. Certain other anemias are due either to excessive red cell destruction or a limited production of red blood cells. Aplastic Anemia may occur for unknown reasons, or it may be the result of a toxic reaction to radiation, certain drugs or chemicals. In rare cases, the disorder may be caused by a tumor in the thymus gland. (For more information on this disorder, choose “Aplastic Anemia” as your search term in the Rare Disease Database.)
Blackfan-Diamond Anemia is a very rare genetic blood disorder which is present at birth. Blood cell abnormalities accompany an unusual physical appearance, paleness, weakness, and lethargy. (For more information on this disorder, choose “Blackfan” as your search term in the Rare Disease Database.)
Fanconi’s Anemia is a rare form of familial aplastic anemia. It is characterized by bone abnormalities, an abnormally small head (microcephaly), decreased functioning of the sex organs (hypogenitalism) and brown pigmentation of the skin. Complications may include infections such as pneumonia, meningitis, excessive bleeding (hemorrhages), and leukemia. Other malignancies may also occur. (For more information on this disorder, choose “Fanconi” as your search term in the Rare Disease Database.)
Causes
Acquired Pure Red Cell Aphasia is thought to be an autoimmune disorder, possibly caused either by a tumor of the thymus gland, certain drugs or a viral infection. It is one of a group of bone marrow failure syndromes.
Diagnosis
A diagnosis of myelodysplastic syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including complete blood counts, examination of the blood smear and bone marrow aspiration and biopsy. A complete blood count measures the number of red and white blood cells and platelets in the body. The blood smear and the small sample of bone marrow removed via a needle (the aspirate) is examined under a microscope to evaluate for the characteristic features of MDS. Chromosome analysis is helpful for diagnostic and prognostic purposes as is a blood test determining the presence of certain mutations (changes) within the blood cells.
Treatment
Acquired Pure Red Cell Aplasia usually goes into remission when certain drugs such as sulfonylureas (used for treating diabetes), gold for treatment of arthritis, penicillin, phenytoin and phenobarbitol used for treating epilepsy, or the anesthetic halothane which can cause this disorder are discontinued. In affected individuals under 30 years of age, the disorder may initially be treated with the immune suppressant drug prednisone and/or antithymocyte globulin. The drugs cyclophosphamide, azathioprine, or 6-mercaptopurine which also suppress the immune system may be used for treating older individuals with Acquired Pure Red Cell Aplasia or those who fail to respond to steroids or antithymocyte globulin. Patients in both age groups may require periodic blood transfusions until the drugs take effect. The drug treatment is slowly decreased when remission of the disorder is acheived.
If an individual with Acquired Pure Red Cell Aplasia has a tumor of the thymus gland, surgical removal of this gland often causes remission of this disorder.
Idiopathic Thrombocytopenic Purpura (ITP)
Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission
Signs & Symptoms
- ITP
- Autoimmune thrombocytopenic purpura
- Thrombocytopenic purpura autoimmune
Signs & Symptoms
Blood tests are considered very low-risk procedures. However, a platelet aggregation test is usually performed on people with bleeding problems. The risk of excessive bleeding is slightly higher.
If you know you have a bleeding problem, tell the healthcare provider so they’re prepared. You should also inform the healthcare provider if you have experienced dizziness, fainting, or nausea during a previous blood test.
Possible risks of a blood draw include:
- multiple puncture wounds (due to trouble finding a vein)
- feeling lightheaded or fainting
- excessive bleeding
- hematoma (a collection of blood under the skin)
- infection at the site of the needlestick
Diagnosis
Unless you’re told otherwise, you can eat and drink before this test. You may schedule it at any time during the day, unless your doctor specifies otherwise. You shouldn’t exercise 20 minutes before your test.
A number of medications can affect the results of this test. Inform your doctor of everything you’re taking, including over-the-counter and prescription drugs. Your doctor will tell you if you should stop taking a drug or change the dosage before your test.
Medications that can interfere with a platelet aggregation test include:
- nonsteroidal anti-inflammatory drugs (NSAIDs), including aspirin (or combo medications containing aspirin)
- antihistamines
- antibiotics (including penicillins, certain cephalosporins, and nitrofurantoin)
- tricyclic antidepressants
- thienopyridine antiplatelet drugs (including prasugrel, clopidogrel, dipyridamole, and ticlopidine)
- theophylline (a medication used to relax airway muscles)
Platelet Aggregation
A platelet aggregation test checks how well your platelets clump together to form blood clots. Platelets are a type of blood cell. They help form blood clots by sticking together. A clot is what stops the bleeding when you have a wound. Without platelets, you could bleed to death.
A platelet aggregation test requires a blood sample. The sample is initially examined to see how the platelets are distributed through the plasma, the liquid part of the blood. A chemical is then added to your blood sample to test how quickly your platelets clot.
This test may also be called a platelet aggregometry test or a platelet aggregation assay.
Signs & Symptoms
- Nosebleeds.
- Bleeding for a long time after a minor cut.
- Heavy or long periods.
- Bleeding gums.
- Blood in your urine.
- Blood in your stool.
- Unexplained bruises.
- Tiny red spots on your skin called petechiae.
Diagnosis
Description. Platelet aggregation studies test the clumping response of platelets to various platelet activators (eg, ADP, collagen, arachidonic acid, thrombin, epinephrine, ristocetin) as continuously recorded by a light transmission aggregometer
Treatment
Platelet aggregation inhibitors work in different places of the clotting cascade and prevent platelet adhesion, therefore no clot formation. Aspirin, the most commonly used antiplatelet drug changes the balance between prostacyclin (which inhibits platelet aggregation) and thromboxane (that promotes aggregation).
Aplastic Anemia
Aplastic anemia is a rare but serious blood disorder. It happens when your bone marrow can’t make enough blood cells and platelets. People with aplastic anemia have an increased risk of serious infections, bleeding issues, heart issues and other complications. There are treatments to manage aplastic anemia symptoms, but a stem cell transplantation is the only cure.
Signs & Symptoms
Aplastic anemia symptoms usually develop over weeks and months, so you may not notice changes in your body right away. In some cases, people have immediate severe symptoms. If you do develop symptoms, they may include:
- Frequent viral infections that last longer than usual.
- Fatigue.
- Bleeding or bruising more easily.
- Feeling short of breath (dyspnea).
- Skin color that’s paler than usual.
- Dizziness.
- Headache.
- Fever.
Some aplastic anemia symptoms mimic other, less serious illnesses. Having a cold or flu doesn’t mean you have aplastic anemia. You should talk to a healthcare provider if you’ve been sick for several weeks, and you feel very tired all the time.
Diagnosis
Medical conditions that can increase your risk include:
- Autoimmune diseases like lupus.
- Viral infections such as Epstein-Barr virus, cytomegalovirus (CMV), parvovirus B19 and human immunodeficiency virus (HIV).
- Paroxysmal nocturnal hemoglobinuria, an acquired disorder when your red blood cells break down too quickly.
Treatment
Certain medical treatments put you at a higher risk of developing aplastic anemia, such as:
- Autoimmune disease treatments.
- Radiation and chemotherapy used to treat cancer.
Extended exposure to carcinogens, such as arsenic and benzene, may also increase your risk of developing aplastic anemia.
The Saher Welfare Foundation is committed to discover better medications for inherited blood disorders and it is working for the treatment of children having blood cancers and chronic diseases since 2018.