Natural history of congenital dyserythropoietic anemia type II

Achille Iolascon, Jean Delaunay, Sunitha N. Wickramasinghe, Silverio Perrotta, Maddalena Gigante, Clara Camaschella

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation 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 anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P <.001) and a reduced bilirubin level (P = .007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype.

Original languageEnglish
Pages (from-to)1258-1260
Number of pages3
JournalBlood
Volume98
Issue number4
DOIs
Publication statusPublished - Aug 15 2001

ASJC Scopus subject areas

  • Hematology

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