title: Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b.
abstract: The authors attempted to assess the utility of interferon alpha2b treatment in a Polynesian girl with a relatively severe form of congenital dyserythropoietic anemia, type 1. The diagnosis was established using routine hematologic and biochemical tests, light and electron microscopy, and electrophoresis of red cell membrane proteins. Response to the treatment was monitored using the blood count and reticulocyte count. The patient was age 14 when interferon treatment was started. Previously, she had been partially dependent on transfusions, and gallstones and iron overload had developed. The dose of interferon alpha2b was initially 3 x 10 units three times a week for 1 year and 3 x 10 units twice a week thereafter. On this treatment, hemoglobin and reticulocytes increased and transfusions became unnecessary. In keeping with a few previous reports, interferon alpha2b proved to be effective in congenital dyserythropoietic anemia, type 1. The patient became transfusion-independent. More cases need to be studied to optimize the dosage of interferon alpha2b and determine how long the treatment can be tolerated.
authors.affiliation: Laboratoire de Biologie Médicale, Centre Hospitalier Territorial, Papeete, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Roda
authors.forename: Jérôme
authors.initials: J
authors.lastname: Pasche
authors.forename: Alain
authors.initials: A
authors.lastname: Fournier
authors.forename: Vaea
authors.initials: V
authors.lastname: Terorotua
authors.forename: Sunitha N
authors.initials: SN
authors.lastname: Wickramasinghe
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
authors.forename: Pierre Olivier
authors.initials: PO
authors.lastname: Schischmanoff
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000188:drug therapy* / Q000208:ethnology / Q000473:pathology; D001803:Blood Transfusion; D004900:Erythroblasts / Q000648:ultrastructure; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000627:therapeutic use*; D008297:Male; D010375:Pedigree; D011114:Polynesia / Q000453:epidemiology; D011994:Recombinant Proteins; D017701:Reticulocyte Count
chemical_list: D006454:Hemoglobins; D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins