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
StatePublished - Jan 1 1988

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Thalassemia
Blood Transfusion
Globins
Codon
hemoglobin Lepore Boston
Anemia
Exons
Genes

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

Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia. / Efremov, D. G.; Efremov, G. D.; Zisovski, N.; Stojanovski, N.; Kutlar, Ferdane; Diaz-Chico, J. C.; Kutlar, Abdullah; Yang, K. G.; Stoming, T. A.; Huisman, T. H.J.

In: British Journal of Haematology, Vol. 68, No. 3, 01.01.1988, p. 351-355.

Research output: Contribution to journalArticle

Efremov, DG, Efremov, GD, Zisovski, N, Stojanovski, N, Kutlar, F, Diaz-Chico, JC, Kutlar, A, Yang, KG, Stoming, TA & Huisman, THJ 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, vol. 68, no. 3, pp. 351-355. https://doi.org/10.1111/j.1365-2141.1988.tb04213.x
Efremov, D. G. ; Efremov, G. D. ; Zisovski, N. ; Stojanovski, N. ; Kutlar, Ferdane ; Diaz-Chico, J. C. ; Kutlar, Abdullah ; Yang, K. G. ; Stoming, T. A. ; Huisman, T. H.J. / Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia. In: British Journal of Haematology. 1988 ; Vol. 68, No. 3. pp. 351-355.
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