Natural history of congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recess ive disease characterized by anemia, jaundice, splenomegaly, and erythrobla st multinuclearity. The natural history of the disease is unknown. The freq uency, the relevance of complications, and the use of splenectomy are poorl y defined. This study examined 98 patients from unrelated families enrolled in the International quired transfusions. Registry of CDA-II. Retrospectiv e data were obtained using an appropriate questionnaire. The mean age at pr esentation was 5.2 +/- 6.1 years, Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. Twenty-three percent of patients for whom data were available developed an emia during the neonatal period, and 10 of these individuals required trans fusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduc ed bilirubin level (P = .007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the he mochromatosis genotype.