Congenital Lack of Intrinsic Factor

Alternate Names : Congenital Pernicious Anemia

How is the disease diagnosed?

A congenital lack of intrinsic factor may be suspected after the history and physical exam. A blood test called a complete blood count, or CBC, is done first. This test counts the number of cells in the blood and will show a low number of red blood cells if anemia is present. Next, a blood test called a vitamin B12 level is usually done, which measures the vitamin B12 level in the blood. A child with congenital lack of intrinsic factor has a low level of vitamin B12.

The diagnosis of congenital lack of intrinsic factor can be confirmed by a Schilling test, which uses radioactive vitamin B12 to measure the amount of vitamin B12 absorbed by the intestines.