Severe intrauterine anemia: a new form of epsilongammagammadeltabeta 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 epsilongammagammadeltabeta thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.
Brantberg
Anne
A
National Center for Fetal Medicine, Department of Obstetrics and Gynecology, St Olavs Hospital, Trondheim University Hospital, Norwegian University of Science and Technology, Trondheim, Norway.
Eik-Nes
Sturla H
SH
Roberts
Nigel
N
Fisher
Chris
C
Wood
William G
WG
D000740:Anemia / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D001483:Base Sequence; D001803:Blood Transfusion; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009664:Norway; D011247:Pregnancy; D011256:Pregnancy Outcome; D013789:Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics
D055544:beta-Globins