congenital dyserythropoietic anemia (CDA-1)

Pathology: 1) one of several forms of hereditary anemia with ineffective erythropoiesis 2) megaloblastic changes with some binuclearity 3) internuclear chromatin bridges connecting some nearly completely separated erythroblasts 4) macrocytic anemia 5) 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: - macrocytic anemia - bone marrow biopsy - high percentage of erythroblasts

References

Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 631