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. 1982 Dec;19(6):437–440. doi: 10.1136/jmg.19.6.437

Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon.

M A Zago, F F Costa, C Bottura
PMCID: PMC1048957  PMID: 7154040

Abstract

A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F Hasharon (alpha 2 Hasharon gamma 2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-alpha/total alpha ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the beta 0-thalassemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous beta 0-thalassaemia is discussed.

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Selected References

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