Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b.
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.
Roda
Laurent
L
Laboratoire de Biologie Médicale, Centre Hospitalier Territorial, Papeete, France.
Pasche
Jérôme
J
Fournier
Alain
A
Terorotua
Vaea
V
Wickramasinghe
Sunitha N
SN
Tamary
Hannah
H
Schischmanoff
Pierre Olivier
PO
Tchernia
Gil
G
Delaunay
Jean
J
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
D006454:Hemoglobins; D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins