Disease name

Biermer disease
 Biermer disease

Marker gene

Gene symbol Chromosome location Protein name
GIF 11q12.2 Gastric intrinsic factor

Prevalence

>1 / 1000

Inheritance

산발성, 상염색체 열성

Age of onset

다양함

ICD 10 code

D51.0

MIM number

170900

Synonym

Addison-Biermer anemia
Pernicious anemia

Summary

Biermer`s disease (pernicious anemia) is due to the severe deficiency in vitamin B12 resulting from the destruction of oxyntic glands in the superior part of the stomach. These glands secrete both the acid and the intrinsic factor, the latter being necessary to absorb vitamin B12 provided by food. Resulting symptoms are anemia with increased red blood cell size which is corrected by an appropriate treatment. The standardized treatment consists of a monthly intramuscular injection of vitamin B12 (100 microgrammes minimum). Without treatment, complications can occur including peripheral neuropathy and disorders linked to spine and cerebellum injuries. This affection is not rare for people over 60 years (prevalence of 2%) but the congenital form is rare. This form is caused by a congenital defect of intrinsic factor secretion or the production of an abnormal intrinsic factor.