Delta-beta thalassaemia in a pathan family

ABSTRACT

Delta-beta-thalassaemia [macron beta-thalassaemia] is a rare type of thalassaemia which mostly results from deletion of macron and beta genes with preservation of gamma genes. Macron beta-thalassaemia is classified into [macron beta]+ and [macron beta] 0 types. The [macron beta] 0-thalassemia is further divided into G gamma A gamma [macron beta] 0-thalassaemia and G gamma [A gamma macron beta] 0-thalassaemia. In heterozygous state, [macronbeta] 0 mutations give rise to phenotype resembling beta-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F. Workup of a 1-year child suffering from pallor, chronic ill health, and splenomegaly referred to our laboratory with the suspicion of beta-thalassaemia, ultimately resulted in a diagnosis on polymerase chain reaction as having homozygous inversion/deletion G gamma [A gamma macron beta] 0-thalassaemia. Her family members were also investigated