NEONATAL MANIFESTATIONS OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-I

Congenital dyserythropoietic anemia type I is a rare inherited bone ma rrow disorder characterized by macrocytic anemia with pathognomonic mo rphological ultrastructural features in erythroid precursors. The dise ase is usually not diagnosed in the neonatal period. In a retrospectiv e study of 31 patients we found that 17 were first seen in the neonata l age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for ges tational age and two had syndactyly. Although rare, congenital dyseryt hropoietic anemia type I should be considered in the differential diag nosis of neonatal anemia.