megaloblastic anaemia 1

Home » Classic Medicine » Hematology and Oncology » megaloblastic anaemia 1
megaloblastic anaemia 12016-11-27T04:20:14+00:00

megaloblastic anaemia 1


A hereditary form (OMIM:261100) of megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor absorption

Molecular pathology Defects of:

AMN, which encodes a protein required for the efficient absorption of vitamin B12, and

CUBN, which encodes cubilin, a protein that acts as a receptor for intrinsic factor-vitamin B12 complexes, 

cause megaloblastic anaemia 1 

Synonyms Congenital vitamin B12 malabsorption syndrome, Imerslund-Gräsbeck syndrome



Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.