congenital dyserythropoietic anemia (CDA-1)
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Pathology
- one of several forms of hereditary anemia with ineffective erythropoiesis
- megaloblastic changes with some binuclearity
- internuclear chromatin bridges connecting some nearly completely separated erythroblasts
- macrocytic anemia
- secondary hemochromatosis
Genetics
- autosomal recessive
- associated with defects in CDAN1
Clinical manifestations
- occasionally associated with bone abnormalities, especially of the hands & feet (acrodysostosis), nail hypoplasia, & scoliosis
Laboratory
- complete blood count:
- bone marrow biopsy
- high percentage of erythroblasts
More general terms
References
- ↑ Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 631