Variation in clinical severity among patients with Hb Lepore-Boston-beta-thalassaemia is related to the type of beta-thalassaemia.

Clinical and haematological observations, made for 10 Yugoslavian patients with the Hb Lepore-beta-thalassaemia condition, suggested a considerable variation from severe disease and complete blood transfusion dependency to a moderate, compensated, anaemia without major complications and without a need for regular blood transfusions. As the type of Hb Lepore was the same in all patients (Lepore-Boston-Washington) and an alpha-globin gene deficiency was absent, it was concluded that the type of beta-thalassaemia determined the severity of the disease. Six patients with severe disease had one of the following three beta-thalassaemia determinants: IVS-1 position 110 G----A, exon 2 codon 39 C----T, and IVS-1 position 1 G----A, while the three patients with mild disease had the Portuguese type of thalassaemia which is caused by the T----C substitution at position 6 of the IVS-1. In one patient with severe disease the beta-thalassaemia determinant remained unknown. Our observations are consistent with those made for thalassaemia patients with a homozygosity for these determinants.