Literature DB >> 2443439

One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population.

G D Efremov1, I Gjorgovski, N Stojanovski, J C Diaz-Chico, T Harano, F Kutlar, T H Huisman.   

Abstract

Blood samples from normal adults and from members of seven families with the Swiss type of hereditary persistence of fetal hemoglobin (HPFH) from Yugoslavia were analyzed for their fetal hemoglobin (Hb F) and G gamma levels, while haplotyping defined the chromosomes at eight or nine polymorphic restriction sites. The data indicate that Swiss-HPFH, characterized by slightly elevated Hb F and G gamma levels and no recognizable hematological abnormality, is associated with a chromosome whose restriction enzyme haplotype is identical to the no. 3 (Senegal) haplotype found in black sickle cell (SS) patients. Many adults with this chromosome have high G gamma but normal Hb F levels. It is suggested that the Swiss-HPFH phenotype results from the action of more than one factor; one is linked to the beta-globin gene cluster and causes high G gamma values, while others result in an increased Hb F production and are perhaps of different origins.

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Year:  1987        PMID: 2443439     DOI: 10.1007/bf00272379

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


  20 in total

1.  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

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.  Hematological observations on Arabian SS patients with a homozygosity or heterozygosity for a beta S chromosome with haplotype #31.

Authors:  A Kutlar; Y Hattori; I Bakioglu; F Kutlar; K Kamel; T H Huisman
Journal:  Hemoglobin       Date:  1985       Impact factor: 0.849

4.  Association of the level of G gamma chain in the fetal hemoglobin of normal adults with specific haplotypes.

Authors:  Y Hattori; F Kutlar; C J Mosley; S M Mayson; T H Huisman
Journal:  Hemoglobin       Date:  1986       Impact factor: 0.849

5.  Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.

Authors:  D Labie; J Pagnier; C Lapoumeroulie; F Rouabhi; O Dunda-Belkhodja; P Chardin; C Beldjord; H Wajcman; M E Fabry; R L Nagel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-04       Impact factor: 11.205

6.  Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin.

Authors:  J M Old; H Ayyub; W G Wood; J B Clegg; D J Weatherall
Journal:  Science       Date:  1982-02-19       Impact factor: 47.728

7.  Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

8.  Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production.

Authors:  J G Gilman; T H Huisman; J Abels
Journal:  Br J Haematol       Date:  1984-02       Impact factor: 6.998

9.  Haplotypes and levels of fetal hemoglobin and G gamma to A gamma ratios in Mediterranean patients with thalassemia minor and major.

Authors:  M Aksoy; A Kutlar; G D Efremov; N Nikolov; G Petkov; A L Reese; T Harano; S S Chen; T H Huisman
Journal:  Am J Hematol       Date:  1985-09       Impact factor: 10.047

10.  Haplotypes of beta S chromosomes among patients with sickle cell anemia from Georgia.

Authors:  Y Hattori; F Kutlar; A Kutlar; V C McKie; T H Huisman
Journal:  Hemoglobin       Date:  1986       Impact factor: 0.849

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  6 in total

1.  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

Review 2.  Control of fetal hemoglobin: new insights emerging from genomics and clinical implications.

Authors:  Swee Lay Thein; Stephan Menzel; Mark Lathrop; Chad Garner
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

Review 3.  Hb F in sickle cell anemia.

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

4.  Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya.

Authors:  K D Lanclos; J Patterson; G D Efremov; S C Wong; A Villegas; P J Ojwang; J B Wilson; F Kutlar; T H Huisman
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

5.  Association of Xmn1 -158 γG variant with severity and HbF levels in β-thalassemia major and sickle cell anaemia.

Authors:  Sneha Dadheech; Suman Jain; D Madhulatha; Vandana Sharma; James Joseph; A Jyothy; Anjana Munshi
Journal:  Mol Biol Rep       Date:  2014-02-02       Impact factor: 2.316

6.  Association between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh.

Authors:  Sanjana Bhagat; Pradeep Kumar Patra; Amar Singh Thakur
Journal:  Int J Biomed Sci       Date:  2012-03
  6 in total

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