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Blood testing typically shows a macrocytic, normochromic anemia, and low levels of serum vitamin B12. A Schilling test can then be used to distinguish between pernicious anemia, vitamin B12 malabsorption, and vitamin B12 deficiency. Approximately 90% of individuals with pernicious anemia have antibodies for parietal cells, however only 50% of individuals with these antibodies have the disease.
Vitamin B12 is a necessary prosthetic group to the enzyme methylmalonyl-coenzyme A mutase. B12 deficiency leads to dysfunction of this enzyme and a buildup of its substrate, methylmalonic acid, the elevated level of which can be detected in the urine and blood. Since the level of methylmalonic acid is not elevated in folic acid deficiency, this test provides a reliable tool in differentiating the two.
Pernicious anaemia is more common among women (1.6 : 1) with a peak occurrence at the age of sixty. It has a hereditary component, and it is notably more common in persons of Northern European ancestry.
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