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

D. G. Efremov, G. D. Efremov, N. Zisovski, N. Stojanovski, Ferdane Kutlar, J. C. Diaz-Chico, Abdullah Kutlar, K. G. Yang, T. A. Stoming, T. H.J. Huisman

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Abstract

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 α-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.

Original languageEnglish (US)
Pages (from-to)351-355
Number of pages5
JournalBritish Journal of Haematology
Volume68
Issue number3
DOIs
Publication statusPublished - Jan 1 1988

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ASJC Scopus subject areas

  • Hematology

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Efremov, D. G., Efremov, G. D., Zisovski, N., Stojanovski, N., Kutlar, F., Diaz-Chico, J. C., ... Huisman, T. H. J. (1988). Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia. British Journal of Haematology, 68(3), 351-355. https://doi.org/10.1111/j.1365-2141.1988.tb04213.x