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Beta Thalassemia (Thalassemia Major, Cooley's Anemia, Mediterranean Anemia) Print E-mail
by Ron Kennedy, M.D., Santa Rosa, CA

Dr. Kennedy Beta thalassemia (thalassemia major, Cooley's anemia, Mediterranean anemia) Thalassa in Greek means the sea (like the Mediterranean Sea) + -emia means in the blood so thalassemia means sea in the blood. Thalassemia is not just one disease. It is a complex contingent of inherited disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. In beta thalassemia, there is a mutation causing underproduction of hemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent in people of Mediterranean origin. Children with this disease inherit one gene from each parent. The parents are carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemia minor, and are clinically normal. Their children affected with beta thalassemia seem entirely normal at birth because at birth we still have predominantly fetal hemoglobin. The anemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatigue, failure to grow, infections and diarrhea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, someday be applicable to this disease.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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