Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family
Authors:
- 1 October 1991
- journal article
- case report
- Published by Springer Nature in Journal of Molecular Medicine
- Vol. 69 (15) , 710-714
Abstract
We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the α-globin cluster and digestion with Mae I of the in vitro amplified 5′ segment of theβ-globin gene shows a combination of triplicatedα globin locus, anti-3.7 kb type, with heterozygous codon 39 C → Tβ 0 thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion:a single extra α-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severeβ + orβ 0 thalassemic mutation.Keywords
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