title: Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.
abstract: We report a case of congenital dyserythropoietic anaemia, type I, with severe pre- and postnatal manifestations. Exchange transfusions were required for fetal anaemia (3.5 g/dl) at 28 and 30 weeks of gestation. Transfusions were administered at birth (Caesarean section at week 35) and at regular intervals thereafter. At 14 months, alpha-interferon therapy was initiated (106 units three times a week). This resulted in stabilization of the haemoglobin at or above 11 g/dl and a reduction in the percentage of erythroblasts with ultrastructurally abnormal heterochromatin. After 9 months, the dose of alpha-interferon was decreased to 106 units twice a week. No relapse of anaemia was noted during an additional 4 months of follow-up.
authors.affiliation: Service de Pédiatrie Générale, Hôpital de Bicêtre, AP-HP, et Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France.
authors.forename: N
authors.initials: N
authors.lastname: Parez
authors.forename: M
authors.initials: M
authors.lastname: Dommergues
authors.forename: V
authors.initials: V
authors.lastname: Zupan
authors.forename: H
authors.initials: H
authors.lastname: Chambost
authors.forename: J B
authors.initials: JB
authors.lastname: Fieschi
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
authors.forename: F
authors.initials: F
authors.lastname: Miélot
authors.forename: E M
authors.initials: EM
authors.lastname: Cramer
authors.forename: J P
authors.initials: JP
authors.lastname: Dommergues
authors.forename: S N
authors.initials: SN
authors.lastname: Wickramasinghe
authors.forename: G
authors.initials: G
authors.lastname: Tchernia
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000628:therapy*; D001856:Bone Marrow Examination; D005078:Exchange Transfusion, Whole Blood / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000627:therapeutic use*; D019190:Iron Overload / Q000209:etiology; D008111:Liver Function Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis / Q000379:methods*; D011994:Recombinant Proteins; D016896:Treatment Outcome
chemical_list: D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins