Variation in clinical severity among patients with Hb Lepore‐Boston‐β‐thalassaemia is related to the type of β‐thalassaemia

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Abstract
Summary Clinical and haematological observations, made for 10 Yugoslavian patients with the Hb Lepore-β-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 a-globin gene deficiency was absent, it was concluded that the type of β-thalassaemia determined the severity of the disease. Six patients with severe disease had one of the following three β-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 β-thalassaemia determinant remained unknown. Our observations are consistent with those made for thalassaemia patients with a homozygosity for these determinants.