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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 fatal outcome. In 1880 Paul Ehrlich determined that this particular type of anaemia is characterised by the presence in blood of large red cell precursors (megaloblasts).

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Upcoming Events

USCAP 113th Annual Meeting

Baltimore Convention Center, Baltimore, Maryland, USA
23-28 March, 2024

Pathology Horizons 2024

MacDonald Bath Spa Hotel, Bath
18-20 April, 2024

Diagnostics North East Conference 2024

The Catalyst, Newcastle upon Tyne
19 April, 2024

ECCMID 2024 - European Congress of Clinical Microbiology and Infectious Diseases

Fira Gran Via, 08038 Barcelona, Spain
27-30 April 2024

British Society for Microbial Technology Annual Microbiology Conference

UK Health Security Agency, Colindale, London
2 May 2024

EQA Reports: Interpreting Key Information & Troubleshooting Tips

ONLINE - Zoom
Thursday 16th May 2024

Access the latest issue of Pathology In Practice on your mobile device together with an archive of back issues.

Download the FREE Pathology In Practice app from your device's App store

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