How is pernicious anaemia diagnosed?

Analysis of a blood sample will show abnormally large, fragile red blood cells (megaloblasts) and a low haemoglobin count, but these are characteristic of all forms of anaemia. Usually, if atrophic gastritis (a thinning of the stomach lining) is identified at endoscopy, this is a very positive sign that pernicious anaemia has developed.

Follow-up tests can be carried out to analyse the levels of vitamin B12 in the plasma and, crucially, to detect the presence of anti-parietal cell antibodies (antibodies against the stomach’s parietal cells which create a substance the body needs to absorb vitamin B12) and/or intrinsic factor antibodies (substance found in the stomach to absorb vitamin B12).

How is pernicious anaemia treated?

Diagnosis can be difficult but treatment is simple: injections of B12. Before the discovery of B12, the disease was always fatal, hence the name pernicious; harmful in a slow, creeping way.

Treatment for pernicious anaemia involves injections of vitamin B12 (hydroxocobalamin) initially every two days for two weeks to remedy the deficiency and to allow the liver to build up stores. Intrinsic factor is not needed because the vitamin is placed directly into the bloodstream. Thereafter, a top-up injection is needed every three months for life.

Living with pernicious anaemia

Following diagnosis, treatment is now highly effective and there are few side effects because the body is simply being supplied with a missing substance. Once identified and treated successfully, pernicious anaemia does not affect health or quality of life significantly.