delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
作者信息
Musumeci S, Romeo M A, Pizzarelli G, Schilirò G, Russo G
出版信息
J Med Genet. 1983 Feb;20(1):73-5. doi: 10.1136/jmg.20.1.73.
Abstract
A case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia was found during a screening programme in Sicily. The proband, a 4-year-old girl, showed a clinical picture of thalassaemia intermedia. Hb F (85.12% by the Singer method) was G gamma A gamma type. The parents and the brother were delta beta-thalassaemia carriers. Structural analysis of Hb F showed both G gamma and A gamma chains in the father, but only A gamma chains in the mother.
摘要
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delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
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本文引用的文献
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