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