Literature DB >> 939551

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.

G Ricco, U Mazza, R M Turi, P G Pich, C Camaschella, G Saglio, L F Bernini.   

Abstract

A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the gamma chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for beta thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same gamma75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a gamma gene nonallelic with those coding for Agamma and Ggamma chains.

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Year:  1976        PMID: 939551     DOI: 10.1007/bf00295821

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  15 in total

Review 1.  Hereditary persistence of fetal haemoglobin.

Authors:  D J Weatherall; J B Clegg
Journal:  Br J Haematol       Date:  1975-02       Impact factor: 6.998

2.  Estimation of small percentages of foetal haemoglobin.

Authors:  K BETKE; H R MARTI; I SCHLICHT
Journal:  Nature       Date:  1959-12-12       Impact factor: 49.962

3.  Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.

Authors:  K Sick; D Beale; D Irvine; H Lehmann; P T Goodall; S MacDougall
Journal:  Biochim Biophys Acta       Date:  1967-06-27

4.  Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family.

Authors:  A G Kendall; P J Ojwang; W A Schroeder; T H Huisman
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

5.  Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability.

Authors:  H Wajcman; D Labie; G Schapira
Journal:  Biochim Biophys Acta       Date:  1973-02-21

6.  Hemoglobin Kenya, the product of fusion of amd polypeptide chains.

Authors:  T H Huisman; R N Wrightstone; J B Wilson; W A Schroeder; A G Kendall
Journal:  Arch Biochem Biophys       Date:  1972-12       Impact factor: 4.013

7.  Evidence for four nonallelic structural genes for the chain of human fetal hemoglobin.

Authors:  T H Huisman; W A Schroeder; W H Bannister; J L Grech
Journal:  Biochem Genet       Date:  1972-10       Impact factor: 1.890

8.  Futher investigations of the gamma-chaina in a ghanaian adult, homozygous for hereditary perisitence of fetal haemoglobin. Isolation of gamma CB-3 peptides and Ggamma:Agamma ratio determination in human Hb E.

Authors:  H Kamuzora; B Ringelhann; F I Konotey-Ahulu; H Lehmann; P A Lorkin
Journal:  Acta Haematol       Date:  1975       Impact factor: 2.195

9.  Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).

Authors:  J B Clegg; M A Naughton; D J Weatherball
Journal:  J Mol Biol       Date:  1966-08       Impact factor: 5.469

10.  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.

Authors:  V Grifoni; H Kamuzora; H Lehmann; D Charlesworth
Journal:  Acta Haematol       Date:  1975       Impact factor: 2.195

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  18 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.  Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family.

Authors:  K Indrak; J Indrakova; F Kutlar; D Pospisilova; I Sulovska; E Baysal; T H Huisman
Journal:  Ann Hematol       Date:  1991-08       Impact factor: 3.673

3.  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

4.  Beta S haplotypes in various world populations.

Authors:  C Oner; A J Dimovski; N F Olivieri; G Schiliro; J F Codrington; S Fattoum; A D Adekile; R Oner; G T Yüregir; C Altay
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

5.  Does G gamma/A gamma ratio and Hb F level influence the severity of sickle cell anaemia.

Authors:  M A el-Hazmi; H M Bahakim; A S Warsy; A al-Momen; A al-Wazzan; I al-Fawwaz; S Huraib; M Harakati
Journal:  Mol Cell Biochem       Date:  1993-07-07       Impact factor: 3.396

Review 6.  Hb F in sickle cell anemia.

Authors:  A D Adekile; T H Huisman
Journal:  Experientia       Date:  1993-01-15

7.  The chemical heterogeneity of the fetal hemoglobin in normal newborn infants and in adults.

Authors:  T H Huisman; H Harris; M Gravely
Journal:  Mol Cell Biochem       Date:  1977-08-19       Impact factor: 3.396

8.  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

9.  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

10.  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

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