Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T

Hemoglobin. 2010 Jun;34(3):322-6. doi: 10.3109/03630269.2010.484956.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Point Mutation / genetics*
  • RNA Splice Sites / genetics*
  • Young Adult
  • beta-Thalassemia / genetics*

Substances

  • RNA Splice Sites