Acta Haematol. 1975;53(6):347-55.

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.

Grifoni V, Kamuzora H, Lehmann H, Charlesworth D.

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.

PMID:: 808940; [PubMed - indexed for MEDLINE]

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Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain. [Hum Genet. 1976]
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.
Ricco G, Mazza U, Turi RM, Pich PG, Camaschella C, Saglio G, Bernini LF. Hum Genet. 1976 Jun 29; 32(3):305-13.
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Masala B, Manca L, Formato M, Matera A. Am J Hematol. 1986 Apr; 21(4):367-76.
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A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found...
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.
Acta Haematol. 1975 ;53(6):347-55.

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