title: A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.
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.
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Marelle J
authors.initials: MJ
authors.lastname: Bouva
authors.forename: Peter
authors.initials: P
authors.lastname: Van Delft
authors.forename: Nicole
authors.initials: N
authors.lastname: Akkerman
authors.forename: Mies C
authors.initials: MC
authors.lastname: Kappers-Klunne
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D026723:Polyadenylation / Q000235:genetics*; D011247:Pregnancy; D017086:beta-Thalassemia / Q000235:genetics*