Association of thalassaemia intermedia with a beta-globin gene haplotype

S. L. Thein, J. S. Wainscoat, M. Sampietro, J. M. Old, D. Cappellini, G. Fiorelli, B. Modell, D. J. Weatherall

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We have identified 14 Asian patients with homozygous β0 thalassaemia who had a mild clinical disorder related to an augmented production of haemoglobin F. None of their parents had an elevated level of Hb F. Restriction fragment length polymorphism analysis of the β-globin cluster of these patients and a control group of Asian thalassaemia major patients showed that 6/14 of the thalassaemia intermedia patients were homozygous for a particular 5' β-globin haplotype (- + - + +), in contrast to 1/42 of the thalassaemia major patients. Furthermore, the - + - + + β haplotype is also associated with amelioration of disease severity in β thalassaemia in an Italian population. This β haplotype is linked to a DNA sequence variation 5' (at position -158) to the (G)γ globin gene which can be detected by the presence (+) of an Xmn I restriction enzyme site. The possible role of the Xmn I-γ polymorphism in relation to this variant HPFH is discussed. We conclude that much of the observed clinical variability of β thalassaemia can now be explained by the inheritance of β thalassaemia chromosomes with different propensities for fetal haemoglobin production.

Original languageEnglish
Pages (from-to)367-373
Number of pages7
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Hematology


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