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