title: Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children.
abstract: Congenital dyserythropoietic anemia type I (CDA I) is a rare disorder of erythropoiesis. The objective of this study was to describe the clinical and laboratory manifestations, the diagnosis procedure, the therapeutic approaches and outcome in CDA I. The 12 patients included belong to the retrospective French Multicenter Study. Clinical and biologic data were compiled. Biologic tests included light and, in some cases, electron microscopy, ektacytometry, and red cell membrane protein electrophoresis. Neonatal manifestations (anemia, early jaundice, and/or splenomegaly) and bone abnormalities were present in 11 of the 12 and 6 of the 12 patients, respectively. CDA I was initially misdiagnosed in four children. By the time of diagnosis, anemia with reticulocytosis lower than expected in a hemolytic anemia was present in all patients. Bone marrow electron microscopy examination revealed characteristic findings in all nine children. Red cell membrane protein 4.1 was reduced in all five children. At least one transfusion was required in 11 of the 12 children. Interferon alpha2 corrected anemia in the three children who received monthly transfusions. CDA I is commonly misdiagnosed in children. It should be sought in patients with unexplained chronic anemia, especially when associated with neonatal manifestations, jaundice, splenomegaly, subnormal or low reticulocytosis, and congenital bone malformations.
authors.affiliation: Department of Pediatrics and French Center for Inherited Erythrocyte and Erythropoiesis Disorders, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France. brigitte.bader-meunier@bct.ap-hop-paris.fr
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bader-Meunier
authors.forename: Guy
authors.initials: G
authors.lastname: Leverger
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Olivier
authors.initials: O
authors.lastname: Schischmanoff
authors.forename: Thérèse
authors.initials: T
authors.lastname: Cynober
authors.forename: Françoise
authors.initials: F
authors.lastname: Bernaudin
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
authors.forename: Martine
authors.initials: M
authors.lastname: Munzer
authors.forename: Laurent
authors.initials: L
authors.lastname: Roda
authors.forename: Christine
authors.initials: C
authors.lastname: Soler
authors.forename: Isabelle
authors.initials: I
authors.lastname: Thuret
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000209:etiology*; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D001847:Bone Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D015331:Cohort Studies; D003937:Diagnosis, Differential; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D007565:Jaundice / Q000209:etiology; D008297:Male; D008854:Microscopy, Electron; D013163:Splenomegaly / Q000209:etiology