Article

Natural history of congenital dyserythropoietic anemia type II.

Istituto di Pediatria, Università di Foggia, Italy.
Blood (impact factor: 9.9). 08/2001; 98(4):1258-60. pp.1258-60
Source: PubMed

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. (Blood. 2001;98:1258-1260)

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Keywords

98 patients
 
appropriate questionnaire
 
autosomal recessive disease
 
CDA-II
 
complications
 
Congenital dyserythropoietic anemia type II
 
correct diagnosis
 
erythroblast multinuclearity
 
hemochromatosis genotype
 
increased hemoglobin
 
jaundice
 
mean age
 
neonatal period
 
reduced bilirubin level
 
transfusions
 
unrelated families
 
values