Literature DB >> 3169739

Prevalence and molecular heterogeneity of alfa+ thalassemia in two tribal populations from Andhra Pradesh, India.

R Fodde1, M Losekoot, M H van den Broek, M Oldenburg, N Rashida, A Schreuder, J T Wijnen, P C Giordano, N V Nayudu, P M Khan.   

Abstract

We describe here the screening of a small group of apparently healthy individuals belonging to the tribal communities of Koya Dora and Konda Reddi. A remarkably high incidence of deletion and nondeletion alpha + thalassemia mutants has been found with allele frequencies and distributions characteristic to each tribe. We have confirmed the strict relationship between Hb S levels and the number of alpha globin genes in double heterozygotes for the S gene and alpha thalassemia. In this population sample we did not find either heterozygous carriers of alpha 0 thalassemia (deletion of both alpha genes in "cis") or individuals showing hemolytic anemia due to inactivation of three alpha-globin genes (Hb H disease). Selection by malaria is most probably responsible for the prevalence of the various alpha + thalassemia haplotypes among the two tribal populations of Andhra Pradesh.

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Year:  1988        PMID: 3169739     DOI: 10.1007/bf00702860

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


  19 in total

1.  Hemoglobin Koya Dora: high frequency of a chain termination mutant.

Authors:  W W De Jong; P Meera Khan; L F Bernini
Journal:  Am J Hum Genet       Date:  1975-01       Impact factor: 11.025

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Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

3.  Alpha-thalassemia in the Kachari population of Assam (India).

Authors:  J Hundrieser; R Deka; B C Gogoi
Journal:  Hemoglobin       Date:  1987       Impact factor: 0.849

4.  Oxygen consumption of phagocytizing cells in human leukocyte and granulocyte preparations: a comparative study.

Authors:  R S Weening; D Roos; J A Loos
Journal:  J Lab Clin Med       Date:  1974-04

5.  Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.

Authors:  D R Higgs; A V Hill; D K Bowden; D J Weatherall; J B Clegg
Journal:  Nucleic Acids Res       Date:  1984-09-25       Impact factor: 16.971

Review 6.  Alpha-thalassemia.

Authors:  D R Higgs; D J Weatherall
Journal:  Curr Top Hematol       Date:  1983

7.  Gamma thalassemia resulting from the deletion of a gamma-globin gene.

Authors:  P K Sukumaran; T Nakatsuji; M B Gardiner; A L Reese; J G Gilman; T H Huisman
Journal:  Nucleic Acids Res       Date:  1983-07-11       Impact factor: 16.971

8.  Competition of normal beta chains and sickle haemoglobin beta chains for alpha chains as a post-translational control mechanism.

Authors:  J R Shaeffer; R E Kingston; M J McDonald; H F Bunn
Journal:  Nature       Date:  1978-12-07       Impact factor: 49.962

9.  gamma-Globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3'-A gamma-globin gene.

Authors:  K Harano; T Harano; F Kutlar; T H Huisman
Journal:  FEBS Lett       Date:  1985-10-07       Impact factor: 4.124

10.  Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes.

Authors:  N Maeda; S M McEvoy; H F Harris; T H Huisman; O Smithies
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

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  9 in total

1.  The Diagnosis of α-Thalassaemia: A Case of Hemoglobin H -α Deletion.

Authors:  Vijay S Bhat; Kalyan Kumar Dewan; Patnam Rajagopalan Krishnaswamy
Journal:  Indian J Clin Biochem       Date:  2010-09-14

2.  A novel delta zero-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA.

Authors:  M Losekoot; R Fodde; P C Giordano; L F Bernini
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

Review 3.  Alpha-thalassaemia.

Authors:  Cornelis L Harteveld; Douglas R Higgs
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

4.  Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of individuals with sickle cell trait.

Authors:  A K Gupta; K A Kirchner; R Nicholson; J G Adams; A N Schechter; C T Noguchi; M H Steinberg
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

5.  Protection against malaria morbidity: near-fixation of the alpha-thalassemia gene in a Nepalese population.

Authors:  G Modiano; G Morpurgo; L Terrenato; A Novelletto; A Di Rienzo; B Colombo; M Purpura; M Mariani; S Santachiara-Benerecetti; A Brega
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

6.  Mutational spectrum of thalassemias in India.

Authors:  Inusha Panigrahi; R K Marwaha
Journal:  Indian J Hum Genet       Date:  2007-01

7.  Genotypic influence of α-deletions on the phenotype of Indian sickle cell anemia patients.

Authors:  Sanjay Pandey; Sweta Pandey; Rahasya Mani Mishra; Monica Sharma; Renu Saxena
Journal:  Korean J Hematol       Date:  2011-09-30

8.  Iron depletion: an ameliorating factor for sickle cell disease?

Authors:  P C Giordano; W Huisman; C L Harteveld
Journal:  ISRN Hematol       Date:  2011-07-05

9.  Negative epistasis between α+ thalassaemia and sickle cell trait can explain interpopulation variation in South Asia.

Authors:  Bridget S Penman; Saman Habib; Kanika Kanchan; Sunetra Gupta
Journal:  Evolution       Date:  2011-08-11       Impact factor: 3.694

  9 in total

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