A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

Abstract:

:A 59-year-old man with beta-thalassaemia major is unusually well. He has no beta-chains in his haemoglobin but is heterozygous for the genes responsible for alphaA and for alphaG Philadelphia. In addition he is also heterozygous for the genes responsible for gammaF and a new gamma-chain, gamma75(E19) Ile-Thr, named gammaF Sardinia. It was not possible to isolate the mutant gamma-chain, but from the overall ratios of Ggamma-:Agamma-Chain and gamma75 Ile : gamma75 Thr, it could be inferred that the mutation had presumably occured in the Ggamma-chain. Some of the propositus' siblings have high levels of Hb A2, and it is suggested that they possibly carry a gene for Lepore chain with the deltabeta-crossover after residue delta126.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

Grifoni V,Kamuzora H,Lehmann H,Charlesworth D

doi

10.1159/000208204

subject

Has Abstract

pub_date

1975-01-01 00:00:00

pages

347-55

issue

6

eissn

0001-5792

issn

1421-9662

journal_volume

53

pub_type

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