Shalev H, Tamary H, Shaft D, Reznitsky P, Zaizov R
Division of Pediatrics, Soraka Medical Center, Beer Sheva, Israel
J Pediatr. 1997 Jul;131(1 Pt 1):95-7. doi: 10.1016/s0022-3476(97)70130-6.
Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. The disease is usually not diagnosed in the neonatal period. In a retrospective study of 31 patients we found that 17 were first seen in the neonatal age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for gestational age and two had syndactyly. Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.
I型先天性红细胞生成异常性贫血是一种罕见的遗传性骨髓疾病，其特征为大细胞性贫血，伴有红系前体细胞特征性的形态学超微结构改变。该病通常在新生儿期不被诊断。在一项对31例患者的回顾性研究中，我们发现17例在新生儿期首次就诊时伴有严重贫血（出生时血细胞比容0.34±0.07）；这17例婴儿中有14例还伴有早期黄疸。6例婴儿小于胎龄，2例有并指畸形。尽管罕见，但在新生儿贫血的鉴别诊断中应考虑I型先天性红细胞生成异常性贫血。
