| Literature DB >> 6188831 |
S Musumeci, M A Romeo, G Pizzarelli, G Schilirò, G Russo.
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.Entities:
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Year: 1983 PMID: 6188831 PMCID: PMC1048994 DOI: 10.1136/jmg.20.1.73
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318