Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes
- 1 April 1983
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 53 (4) , 667-671
- https://doi.org/10.1111/j.1365-2141.1983.tb07318.x
Abstract
Summary. This paper reports the results of alpha globin gene analysis in a Sardinian family with interacting α and β thalassaemia genes. The propositus, who was identified in a newborn survey as he had 26·0% Hb Bart's and 74·0% Hb F, successively developed the clinical and haematological picture of a transfusion-dependent thalassaemia major. According to the haemoglobin pattern, restriction endonuclease analysis of the DNA from this patient showed the deletion of three of the four α-globin structural genes. Thus β°-thalassaemia homozygotes with the deletion of three α-structural genes seem to have a severe clinical phenotype similar to that of patients with a full complement of four a-globin structural genes.This publication has 10 references indexed in Scilit:
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