Literature DB >> 808940

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.

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

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.

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Year:  1975        PMID： 808940     DOI： 10.1159/000208204

Source DB:  PubMed          Journal:  Acta Haematol        ISSN： 0001-5792            Impact factor:   2.195


  12 in total

1.  Frequency of human A gamma 75Thr globin chain in a population from Tunisia.

Authors:  M P Lefranc; G Lefranc; M Farhat; R Jmour; K Boukef; Y Beuzard; F Galacteros; J Rosa
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  The frequency of the gamma chain variant A gamma T in different populations, and its use in evaluating gamma gene expression in association with thalassemia.

Authors:  T H Huisman; F Kutlar; T Nakatsuji; A Bruce-Tagoe; Y Kilinç; M N Cauchi; C Romero Garcia
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).

Authors:  Y Wada; T Fujita; K Kidoguchi; A Hayashi
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

4.  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.

Authors:  G Ricco; U Mazza; R M Turi; P G Pich; C Camaschella; G Saglio; L F Bernini
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

5.  Hemoglobin abnormalities. An evaluation on new-born infants and their mothers in a maternity unit close to Brazzaville (P.R. Congo).

Authors:  M Lallemant; F Galacteros; S Lallemant-Lecoeur; J Feingold; P Carnevale; V Boukila; J Mouchet; J Rosa
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

6.  Identification of fetal hemoglobin in blood stains by high performance liquid chromatography.

Authors:  H Inoue; F Takabe; Y Maeno; M Iwasa
Journal:  Z Rechtsmed       Date:  1989

Review 7.  Recent developments in foetal haemoglobin research.

Authors:  H Kamuzora
Journal:  Humangenetik       Date:  1975-09-20

8.  Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).

Authors:  G Saglio; G Ricco; U Mazza; C Camaschella; P G Pich; A M Gianni; E Gianazza; P G Righetti; B Giglioni; P Comi; M Gusmeroli; S Ottolenghi
Journal:  Proc Natl Acad Sci U S A       Date:  1979-07       Impact factor: 11.205

9.  Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

Authors:  W A Schroeder; T H Huisman; G D Efremov; J R Shelton; J B Shelton; R Phillips; A Reese; M Gravely; J M Harrison; H Lam
Journal:  J Clin Invest       Date:  1979-02       Impact factor: 14.808

10.  Delta beta (F)-thalassaemia in Sardinia.

Authors:  A Cao; M A Melis; R Galanello; A Angius; M Furbetta; P Giordano; L F Bernini
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318
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