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Beta Thalassemia (cont.)

The diagnosis of thalassemia major and minor

Persons with thalassemias have smaller sized red blood cells than unaffected people as well as low red blood cell counts (anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) not only by conventional clinical and blood testing, but also by molecular and genetic tests. These tests permit accurate diagnosis to be made at any time, even before birth (in fact, well before the beta chains are even synthesized).

The treatment of thalassemia major

Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, the primary treatments are directed at relieving symptoms of the illness. Selected patients may qualify for bone marrow or stem cell transplants. Gene therapy remains a potential treatment for the future.

The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.

Additional information is also available through the following organizations:

The National Institutes of Health (NIH)
Cellular Hematology Scientific Research Group
Blood Diseases Program

National Heart, Lung, and Blood Institute
6701 Rockledge Drive, MSC-7950
Bethesda, MD 20892-7950. USA
Phone: 301-435-0050
Fax: 301-480-0868

Cooley's Anemia Foundation,
129-09 26th Avenue - #203
Flushing, NY 11354, USA
Phone: 800-522-7222
Fax: 718-321-3340

Thalassemia International Federation
Philippou Hadjigerogiou No.1- Flat 8
P.O. Box 8807
Nicosia, Cyprus
Phone: (357) 2-319129
Fax: (357) 2-314552

Medically reviewed by John A. Daller, MD; American Board of Surgery with subspecialty certification in surgical critical care


Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.

Medically Reviewed by a Doctor on 8/15/2016


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