A New Hb Variant: Hb F Sardinia γ75 (e 19) Isoieucine→Threonine Found in a Family with Hb G Philadelphia, β-Chain Deficiency and a Lepore-Like Haemoglobin Indistinguishable from Hb A2

Authors:
  • VGV. Grifoni
    V. Grifoni
  • HKH. Kamuzora
    H. Kamuzora
  • HLH. Lehmann
    H. Lehmann
  • DCDeborah Charlesworth
    Deborah Charlesworth
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Abstract
A 59-year-old man with β -thalassaemia major is unusually well. He has no γ -chains in his haemoglobin but is heterozygous for the genes responsible for αA and for αG Philadelphia. In addition he is also heterozygous for the genes responsible for γF and a new γ-chain, γ75 (E19) Ile – Thr, named γF.Sardinia. It was not possible to isolate the mutant γ-chain, but from the overall ratios of Gγ-:Aγ-Chain and γ75Ile : γ75 Thr; it could be inferred that the mutation had presumably occured in the Gγ-chain. Some of the propositus’ siblings have high levels of Hb A2, and it is suggested that they possibly carry a gene for a Lepore chain with the δβ -crossover after residue δ126.