Severe intrauterine anemia: a new form of εγγδβ thalassemia presenting in utero in a Norwegian family

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 epsilon gamma gamma delta beta thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.