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Pernicious anaemia: testing, staging and advances in genetics

Pernicious anaemia is a common cause of vitamin B12 deficiency. Irrespective of the cause of the disease, the most well-defined consequence is disturbed blood cell production and resulting megaloblastic anaemia.

Pernicious anaemia is the end result of autoimmune chronic gastritis, a slowly progressive inflammatory disease of the stomach lining that leads to atrophy of gastric parietal cells where intrinsic factor, a substance necessary for vitamin B12 absorption, is produced. The main focus of laboratory testing in cases of suspected pernicious anaemia is confirmation of B12 deficiency and the haematological consequences thereof. An additional approach is afforded by the autoimmune nature of the underlying gastric damage and the associated presence of circulating autoantibodies, and more recently an appreciation of the genetic aspects of this autoimmune condition.

Introduction

The history of progress towards understanding pernicious anaemia (PA) begins in 1872 with publication of descriptive case histories prepared by German physician Anton Biermer. He coined the term pernicious anaemia to emphasise what was then an inevitably f

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