Thalassemia major is a genetic blood disorder that causes abnormal hemoglobin production, resulting in anemia. It is more common in people of Mediterranean, African American, and Asian ancestry. Symptoms include anemia, poor appetite, and growth retardation. Treatment includes blood transfusions, chelation therapy, and bone marrow transplantation.
Thalassemia major, also known as beta thalassemia major or Cooley’s anemia, is a genetic blood disorder that causes the body to produce an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Thalassemia major occurs when the production of the protein beta globin is affected by genetic defects, resulting in destruction of red blood cells and anemia.
To develop the blood disorder, patients must inherit a faulty gene from both parents. Thalassemia minor occurs when a patient inherits only one defective gene. Patients diagnosed with thalassemia minor have no symptoms and are simply carriers of the faulty gene.
Thalassemia major is more common in people of Mediterranean ancestry, including Greeks and Italians. African Americans and Asians, especially Chinese, are also genetically predisposed to the blood disorder. Prenatal screenings and genetic counseling are available for those concerned about a family history of the disease.
When a baby is born with thalassemia major, the diagnosis isn’t always apparent until the baby develops anemia, usually during the first year of life. Symptoms of thalassemia major that a parent may notice include fussiness, poor appetite, and increased infections. As the child matures, other symptoms may include growth retardation, facial bone deformities, and a distended abdomen caused by swelling of the liver and spleen. Without treatment, the blood disorder can cause heart failure and liver problems.
Thalassemia major is diagnosed by blood tests. A complete blood count (CBC) identifies anemia, while smaller-than-average red blood cells and other abnormalities that are characteristic of the blood disorder can be seen under a microscope. An additional test called hemoglobin electrophoresis helps further identify the abnormal hemoglobin typical of this type of thalassemia.
The most common treatment for thalassemia major is a regimen of regular blood transfusions. Patients are often given an additional drug, called chelation therapy, to reduce the harmful effects of transfusions, which can cause iron to build up abnormally in the body. Most patients are also advised to take daily doses of folic acid. Bone marrow transplantation may be a viable treatment option in some patients, particularly children, and those who have siblings who can serve as matched bone marrow donors. While these treatment options have improved the prognosis for many patients, long-term survival remains a challenge for those with severe cases of the disease.
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