THALASSEMIA

 

T

halassemia is one of the most common single gene disorders and is widely distributed in the Mediterranean region (Barragan et al., 2006). Thalassemia syndromes are a heterogeneous group of inherited anemias characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer (Forget, 2000).

In 1925, Thomas Cooley and Pearl Lee described homozygous β-thalassemia. They recognized similarities in the disease entity and clinical course of severe anemia, splenomegaly, severe growth retardation, and bone changes affecting four children of Greek and Italian origin. As all early cases were reported in children with Mediterranean background the disease was termed "Thalassemia" from the Greek word "Thalassos" meaning "sea" and "emia" which means "related to blood". Over the years, the disease proved to be widely occurring throughout tropical countries (Cooley et al., 1925).

It represents a serious health problem, with a predicted 1000 new patients born each year (Hussein et al, 1993).             

The first case of β-thalassemia in Egypt was reported in the 1940s by Professor El Diwany, ever since there has been increasing interest to reveal the extent of occurrence of this problematic disease in Egypt (Selim et al.,1974).