title: Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.
abstract: Congenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemia. More than 200 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. Since 1967, we were able to follow 48 cases of CDA II from 43 families for up to 35 years. All patients exhibit chronic anemia of variable severity requiring regular red cell transfusions only in a minority of children; 60% developed gallstones before the age of 30 years, and 16 patients had cholecystectomy between 8 and 34 years of age. Iron overload was a frequent complication. In 16 cases, iron depletion started between 7 and 36 years. Three patients died from secondary hemochromatosis. Splenectomy, performed in 22 cases, led to moderate increases in hemoglobin values and eliminated the need for transfusions but did not prevent further iron loading. The current recommendation is to consider splenectomy if the anemia compromises patients' performance, and to manage iron overload according to the guidelines derived from patients with thalassemia.
authors.affiliation: Abteilung Innere Medizin III (Hematology/Oncology) der Universität Ulm, Robert Koch Str 8, D-89081 Ulm, Germany. hermann.heimpel@medizin.uni-ulm.de
authors.forename: Hermann
authors.initials: H
authors.lastname: Heimpel
authors.forename: Volker
authors.initials: V
authors.lastname: Anselstetter
authors.forename: Ladislav
authors.initials: L
authors.lastname: Chrobak
authors.forename: Jonas
authors.initials: J
authors.lastname: Denecke
authors.forename: Beate
authors.initials: B
authors.lastname: Einsiedler
authors.forename: Kerstin
authors.initials: K
authors.lastname: Gallmeier
authors.forename: Antje
authors.initials: A
authors.lastname: Griesshammer
authors.forename: Thorsten
authors.initials: T
authors.lastname: Marquardt
authors.forename: Gritta
authors.initials: G
authors.lastname: Janka-Schaub
authors.forename: Martina
authors.initials: M
authors.lastname: Kron
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kohne
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D002769:Cholelithiasis / Q000209:etiology; D003676:Deferoxamine / Q000627:therapeutic use; D018450:Disease Progression; D017707:Erythrocyte Transfusion / Q000009:adverse effects; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000188:drug therapy / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012042:Registries; D013156:Splenectomy; D013163:Splenomegaly / Q000209:etiology / Q000601:surgery; D016896:Treatment Outcome
chemical_list: D007502:Iron Chelating Agents; D003676:Deferoxamine