Polymorphism of foetal haemoglobin in the Sardinian beta +-thalassaemia.

Abstract:

:12 thalassaemic patients from Northern Sardinia showing the beta + phenotype were examined by isoelectric focusing and high-performance liquid chromatography techniques for the determination of the variant A gamma T globin chain of the foetal haemoglobin. Two patients (16.7%) were homozygotes for the A gamma T gene variant, 2 (16.7%) were heterozygotes and 8 (66.7%) were homozygotes for the normal A gamma I allele. The A gamma T gene frequency was 0.183, much lower than the observed 0.823 in beta zero homozygosity. These data suggest the presence of at least 2 beta +-thalassaemic chromosomes in Sardinians, one associated with the variant A gamma T allele and one associated with the normal A gamma I. The latter is prevalent among adult patients showing the intermediate form of the thalassaemic disease, which is not transfusion-dependent.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

Masala B,Formato M,Manca L,Demuro P,Gallisai D,Dore F,Longinotti M

doi

10.1159/000206057

subject

Has Abstract

pub_date

1986-01-01 00:00:00

pages

208-11

issue

4

eissn

0001-5792

issn

1421-9662

journal_volume

76

pub_type

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