Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T - Université des Antilles Access content directly
Journal Articles Hemoglobin Year : 2010

Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T

Cédrick Broquere
  • Function : Author
Karine Brudey
  • Function : Author
Cornelis L Harteveld
  • Function : Author
Christian Saint-Martin
  • Function : Author
Jacques Elion
  • Function : Author
Piero C Giordano
  • Function : Author
Marc Romana
  • Function : Author
  • PersonId : 1102553

Abstract

Ⅺ We present the hematological characteristics of five patients from Surinam and the bordering French Guyana, who are carriers of the rare b-thalassemia (b-thal) mutation HBB:c.315+1G>T. Analysis of the phenotype/genotype relationship shows that this allele is a b 0-thal variant and illustrates the modulating effect of the a-globin gene status on the b-thal phenotype. The ethnic origin of the five probands, belonging to the so-called Bush Negroes Maroons of Surinam and French Guyana, strongly suggests that this b-thal mutation has a West African origin and spread in this ethnic group because of a founder effect and/or genetic drift.
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hal-03265329 , version 1 (22-06-2021)

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Cédrick Broquere, Karine Brudey, Cornelis L Harteveld, Christian Saint-Martin, Jacques Elion, et al.. Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T. Hemoglobin, 2010, 34 (3), pp.322-326. ⟨10.3109/03630269.2010.484956⟩. ⟨hal-03265329⟩
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