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Severe intrauterine anemia of unknown cause presents a diagnostic challenge. We describe a Norwegian case, managed successfully by intrauterine transfusions, that further investigations demonstrated to be due to a rare type of thalassemia. A deletion of the 5' end of the beta globin gene cluster was characterized, the breakpoints sequenced and a new type of epsilongammagammadeltabeta thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.

Original publication

DOI

10.3324/haematol.2009.007534

Type

Journal article

Journal

Haematologica

Publication Date

08/2009

Volume

94

Pages

1157 - 1159

Keywords

Anemia, Base Sequence, Blood Transfusion, Diagnosis, Differential, Female, Fetal Diseases, Gene Deletion, Humans, Infant, Newborn, Molecular Sequence Data, Norway, Pregnancy, Pregnancy Outcome, Thalassemia, Ultrasonography, Prenatal, Young Adult, beta-Globins