Literature DB >> 6188831

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.

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.

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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


  4 in total

1.  Three cases of homozygous beta, delta-thalassemia (or microcythaemia) with high haemoglobin F in a Sicilian family.

Authors:  E Silvestroni; I Bianco; G Reitano
Journal:  Acta Haematol       Date:  1968       Impact factor: 2.195

2.  A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia.

Authors:  A B Amin; N L Pandya; P P Diwin; P D Darbre; C Kattamis; A Metaxatou-Mavromati; J M White; W G Wood; J B Clegg; D J Weatherall
Journal:  Br J Haematol       Date:  1979-12       Impact factor: 6.998

3.  Delta-beta-thalassemia is due to a gene deletion.

Authors:  S Ottolenghi; P Comi; B Giglioni; P Tolstoshev; W G Lanyon; G J Mitchell; R Williamson; G Russo; S Musumeci; G Schillro; G A Tsistrakis; S Charache; W G Wood; J B Clegg; D J Weatherall
Journal:  Cell       Date:  1976-09       Impact factor: 41.582

4.  Homozygous G gamma delta beta thalassaemia.

Authors:  J H Matthews; D Rowlands; J K Wood; W G Wood
Journal:  Clin Lab Haematol       Date:  1981
  4 in total

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