Article
A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.
Haematologica - 1 Apr 2005
Giordano Piero C, Bouva Marelle J, Van Delft Peter, Akkerman Nicole, Kappers-Klunne Mies C, Harteveld Cornelis L
Abstract excerpt
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...
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