megaloblastic anaemia 1

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megaloblastic anaemia 12016-11-27T04:20:14+00:00

megaloblastic anaemia 1

HAEMATOLOGY

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

References http://www.omim.org/entry/261100

http://www.uniprot.org/uniprot/O60494

 

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