Molecular Analysis Of lntron-1 Mutation In β-Globin Gene Of β-Thalassemia

Abstract

Thalassemia may have originated over 500, years ago, when (Cooley

& Lee, 1925) described a torm of sever anemia, splenomegaly and bone changes in ltahan children. Because early cases were reported in children of Mediterranean origin, it called Mediterranean anemia,until (Whipple & Bradford, 1936) attempted to convert various previous titles into one word Thalassemia from the Greek word for Sea (tlla/a), blood (emia). According to this clinical syndromes and its severity the thalassemia are classified into four kinds:

I. Thalassemia major: severe anemia, red cells transfusion required to maintain life.

2. Thalassemia intermedia: moderate anem1a, red cells transfusion occasionally required.

3. Thalassemia minor : slight if any anemia, microcytic red cells often with erythrocytosis.

4. Thalassemia minima: silent thalassemia, no clinical or hematologic abnormality demonstratable by family studies or gene analysis.

Thalassemia have in common deficient synthesis of one or more of the polypeptide chain of the normal human hemoglobin (Bank, 1969). The primary feature is a quantitative one and contrasts with the qualitative change of hemoglobin structure that characterize the hemoglobmopathies (Nienhuis, 1984).