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.
Journal article
2009-08-01T00:00:00+00:00
94
1157 - 1159
2
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