Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.
We present the hematological characteristics of five patients from Surinam and the bordering French Guyana, who are carriers of the rare beta-thalassemia (beta-thal) mutation HBB:c.315+1G>T. Analysis of the phenotype/genotype relationship shows that this allele is a beta(0)-thal variant and illustrates the modulating effect of the alpha-globin gene status on the beta-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 beta-thal mutation has a West African origin and spread in this ethnic group because of a founder effect and/or genetic drift.
INSERM U763, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France.
Cédrick
C
Broquere
Karine
K
Brudey
Cornelis L
CL
Harteveld
Christian
C
Saint-Martin
Jacques
J
Elion
Piero C
PC
Giordano
Marc
M
Romana
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics*
D022821:RNA Splice Sites