Autor: |
Beris, Ph., Darbellay, R., Hochmann, A., Pradervand, E., Pugin, P. |
Zdroj: |
Journal of Molecular Medicine; October 1991, Vol. 69 Issue: 15 p710-714, 5p |
Abstrakt: |
Summary We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the a-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of theß-globin gene shows a combination of triplicateda globin locus, anti-3.7 kb type, with heterozygous codon 39 C ? Tß0 thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion:a single extra a-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severeß+ orß0 thalassemic mutation. |
Databáze: |
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