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

نویسندگان

  • Piero C Giordano
  • Marelle J Bouva
  • Peter Van Delft
  • Nicole Akkerman
  • Mies C Kappers-Klunne
  • Cornelis L Harteveld
چکیده

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.

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عنوان ژورنال:
  • Haematologica

دوره 90 4  شماره 

صفحات  -

تاریخ انتشار 2005