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What is Thalassemia Major?

By Cathy Crenshaw Doheny
Updated Feb 17, 2024
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Thalassemia major, also known as beta thalassemia major or Cooley's anemia, is a genetic blood disorder that causes the body to manufacture an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Thalassemia major occurs when production of the beta globin protein is affected by gene defects, resulting in red blood cell destruction and anemia.

In order to develop the blood disorder, patients must inherit a defective gene from both parents. Thalassemia minor occurs when a patient inherits only one defective gene. Patients diagnosed with thalassemia minor do not exhibit symptoms and are simply carriers of the defective gene.

Thalassemia major is most common in people of Mediterranean descent, 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 to those who are concerned about a family history of the disease.

When a baby is born with thalassemia major, the diagnosis is not always apparent until the child 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 delayed growth, bone deformities in the face, and an extended abdomen caused by liver and spleen swelling. Without treatment, the blood disorder can result in heart failure and liver problems.

Thalassemia major is diagnosed using 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 viewed under a microscope. An additional test called a hemoglobin electrophoresis helps to further identify the abnormal hemoglobin that is typical of this type of thalassemia.

The most common treatment for thalassemia major is a regimen of regular blood transfusions. Patients are often prescribed an additional medication, called chelation therapy, to reduce the damaging effects of the transfusions, since they can cause an abnormal accumulation of iron 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, especially children, and those who have full siblings who can serve as matched bone marrow donors. Though these treatment options have improved the prognosis for many patients, long term survival remains a challenge for those who are affected by severe cases of the disease.

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Discussion Comments
By anon281727 — On Jul 25, 2012

Thalassemia can be cured by panchakarma ayurvedic treatment. A baby of four years, with a known case of major thalassemia was having monthly blood transfusion since three months of age. Now after the panchakarma basti treatment her hb percentage increased from 3.5 to 6.

I am a child specialist with 25 years experience and can claim that thalassemia can be cured.

By sweetPeas — On Jun 21, 2011

Thalassemia major must be a very difficult disease to deal with. I wouldn't think that it would be a very common disease since it is genetic and both parents have to carry the gene. On the other hand, since only one parent has to carry the gene to produce a carrier child, there are probably a lot of carriers.

I'm glad that they have genetic counseling available since it is most common in certain ethnic groups.

The anemia that results from this condition leads to real serious problems like deformities, heart problems, and liver problems.

Just imagine what it is like having to endure blood transfusion on a regular basis and then the possibility of having a bone marrow transplant.

By sunnySkys — On Jun 21, 2011

@SZapper - Kids can be so cruel. At least your friend was lucky enough not to suffer from bone deformities of the face! Not to mention the possible heart and liver issues.

I think anyone who could possibly have a baby that suffers from this condition should definitely get the screening done. It sounds like if you catch it early and treat it thalassemia can be manageable.

By SZapper — On Jun 21, 2011

A former coworker of mine had thalassemia anemia. Although she didn't have a severe case she still had to get the regular blood transfusions as well as take supplements. From what I could see the disease didn't affect her life much aside from the treatments.

She told me when she was in high school it was a while other story though. She was extremely thin because of the thalassemia and people used to accuse her of being anorexic!

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