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Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia). There was a significant difference in the incidence of alpha thalassaemia between the two groups: 14/27 of the patients with thalassaemia intermedia also had deletion forms of alpha thalassaemia, while only 4/30 of the patients with thalassaemia major were similarly affected. Thus in Cypriot patients who are homozygous for beta thalassaemia the co-inheritance of alpha thalassaemia is an important factor in determining the clinical course.

Original publication

DOI

10.1111/j.1365-2141.1983.tb02041.x

Type

Journal article

Journal

British journal of haematology

Publication Date

03/1983

Volume

53

Pages

411 - 416

Keywords

Humans, Thalassemia, Chromosome Deletion, DNA Restriction Enzymes, Globins, Genotype, Homozygote, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Cyprus, Female, Male