Thalassaemia intermedia in a family with β0-thalassaemia and Hb Hasharon

Abstract

A Brazilian family of Italian descent is described in which the β-thalassaemia gene is interacting with an α chain variant Hb Hasharon (α 47 Asp ≥His). One patient who was affected by homozygous β0-thalassaemia and heterozygous α(Hasharon) displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F(Hasharon (α2(Hasharon)γ2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-α/total α ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the β0-thalassaemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous β0-thalassaemia is discussed.