Delta-Beta Thalassaemia in a Pathan Family.

Delta-beta-thalassaemia (delta beta-thalassaemia) is a rare type of thalassaemia which mostly results from deletion of delta and beta genes with preservation of gamma genes. beta delta-thalassaemia is classified into (delta beta)(+) and (delta beta)(0) types. The (delta beta)(0)-thalassemia is further divided into G(gamma)A(gamma)(beta delta)(0)-thalassaemia and G(gamma)A(gamma)(beta delta)(0)-thalassaemia. In heterozygous state, (delta beta)(0) mutations give rise to phenotype resembling b -thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A(2). 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)(beta delta)(0)-thalassaemia. Her family members were also investigated.