Thalassemia Disease

Thalassemia is a genetic disease, the defect can caused by either mutation or deletion, that affected in result of synthesis or no synthesis of one of the globin chains that make up hemoglobin. The abnormal of hemoglobin molecules causing anemia, the characteristic symptom of thalassemias.

People with thalassemia disease will result underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. Two conditions may overlap, since some conditions causes abnormalities in globin proteins also affect their production of globin protein. Both of these conditions cause anemia.

All thalessemia diseases have similar symptoms but the levels are varied. Most of the patients experienced mild anemia The symptoms are more severe such as on thalassemia beta major, jaundice may occur, open sores on the skin (like ulcers), gallstones and enlarged lymph. Too active in bone marrow, can make thickening the bone mainly on head and face bone. Too long bone make more fragile and easily broken.

Children with thalassemia will growing late and too slow reach puberty time. Too often of getting blood transfusion make many iron substance accumulate on every muscle even in hearth muscle, this condition can make hearth fail.