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One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F for the G gamma type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for G gamma delta beta thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for G gamma A gamma delta beta thalassaemia. From this analysis, and from previously reported data on G gamma A gamma delta beta thalassaemia, the phenotypic expression of the two varieties of delta beta thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of delta beta thalassaemia is discussed.

Type

Journal article

Journal

Br J Haematol

Volume

43

Pages

537 - 48