PREVALENCE OF- β THALASSAEMIA CARRIERS IN BENI-SUEF

Abstract

A form of severe anaemia occurring early in life and associated with splenomegaly and bone changes was first described by Cooley and Lee (1925).

In 1932a Whipple and Bradford published a comprehensive account of pathologic findings in this disease. Whipple coined the phrase thalassacmia, condensing it to thalassaemia (thalassa "8:x11crcrcr") is a Greek word meaning "sea" since early patients were all of Mediterranean back­ ground".

Yet it was not before 1940 that the true genetic character of this disorder was fully understood. It became clear that the disease described by Cooley and Lee is the homozygous state of a partially dominant autosomal gene, for which the heterozygous state is associated with milder haematologic changes. The severe homozygous condition became known as thalassaemia major, while the heterozygous states were designated according to severity as thalassaemia minor or minima (Ingram and Stretton, 1959). Later, the term thalassaemia intermedia was used to describe the disorders that are milder than the major form but more severe than the trait. More recently it has been established that