Congenital Dyserythropoietic Anemia Type II (CDAN2)

CDAN2is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene.

Enquist et al. (1972) described 3 cases in a sibship of 10. They described the occurrence of Gaucher-like histiocytes in bone marrow, resembling those seen in chronic myelogenous leukemia and thalassemia. They made the important observation that heterozygotes may show some of the serologic abnormalities of HEMPAS without clinical disease.