Abstract

REVIEW ARTICLE ON THALASSEMIA

Bhavani Bai Bhukya*, K. Malleswari and D. Rama Brahma Reddy

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Abstract

Thalassemias are a heterogeneous grouping of genetic disorder that result from a decreased synthesis of alpha or beta chains of hemoglobulin (Hb).[1] Thalassemia is a blood disorder that is caused DNA mutations in cells that are responsible for producing hemoglobin. Hemoglobin made upof HEAM ring and 4 globin chains. 2 is alpha chains. and 2 beta chains. For most symptomatic patients with thalassemia, there is no definite cure only supportive management of the anemia is possible. A Very limited number of patients with thalassemia may be cured by bone marrow transplantation from HLAidentical donors.[2] The thalassemia are among the most common genetic disorder worldwide, occuring more frequently in the subcontinent, southeast Asia, and West Asia and West Africa. Ineffective bone marrow erythropoiesis and excessive red blood cells hemolysis together account for the anemia.[3] Alpha thalassemia depresses only the production of the alpha chains, and beta thalassemia depresses only production of beta chains. clinically both alpha and beta thalassemia may occur in major (homozygous), intermediate, and minor (heterozygous) genetic forms and also can interact with presence of abnormal hemoglobins in the same individual.[4]

Keywords: Alpha thalassemia, Beta thalassemia, one mutated gene, two mutated genes, peripheral smear examination, reticulocyte count.