Abstract
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.
MeSH terms
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Anemia, Dyserythropoietic, Congenital / blood
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Anemia, Dyserythropoietic, Congenital / classification
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Anemia, Dyserythropoietic, Congenital / diagnosis*
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Anemia, Dyserythropoietic, Congenital / genetics
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Anemia, Dyserythropoietic, Congenital / pathology
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Anemia, Macrocytic / pathology
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Anemia, Neonatal / diagnosis
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Blood Transfusion
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Bone Marrow Diseases / blood
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Bone Marrow Diseases / genetics
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Bone Marrow Diseases / pathology
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Diagnosis, Differential
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Erythrocyte Indices
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Erythrocytes / pathology
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Erythroid Precursor Cells / pathology
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Erythroid Precursor Cells / ultrastructure
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Follow-Up Studies
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Hematocrit
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Humans
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Infant, Newborn
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Infant, Small for Gestational Age
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Jaundice, Neonatal / blood
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Jaundice, Neonatal / pathology
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Microscopy, Electron
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Reticulocyte Count
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Retrospective Studies
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Syndactyly / pathology