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

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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https://hal.univ-antilles.fr/hal-03265329
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Submitted on : Tuesday, June 22, 2021 - 1:46:30 PM
Last modification on : Wednesday, June 30, 2021 - 9:40:16 PM

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Cédrick Broquere, Karine Brudey, Cornelis 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, Informa Healthcare, 2010, 34 (3), pp.322-326. ⟨10.3109/03630269.2010.484956⟩. ⟨hal-03265329⟩

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