A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Haematologica. 2005 Apr;90(4):551-2.

Abstract

At least 180,000 autochthonous and allochthonous people are carriers of a large spectrum of hemoglobinopathies in The Netherlands. We describe two cases, the first, a 33-year old Surinamese Creole woman, studied because of an intermediate hemolytic anemia; the second, a couple requesting analysis because of a previously diagnosed carrier state in the male partner, while the carrier state in the pregnant female was uncertain.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Polyadenylation / genetics*
  • Pregnancy
  • beta-Thalassemia / genetics*