Journal Article

Hereditary haemochromatosis

J.K. Limdi and J.R. Crampton

in QJM: An International Journal of Medicine

Published on behalf of Association of Physicians of Great Britain and Ireland

Volume 97, issue 6, pages 315-324
Published in print June 2004 | ISSN: 1460-2725
Published online June 2004 | e-ISSN: 1460-2393 | DOI:
Hereditary haemochromatosis

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Hereditary haemochromatosis is a very common genetic defect in the Caucasian population, with an autosomal recessive inheritance. It is characterized by inappropriately increased iron absorption from the duodenum and upper intestine, with consequent deposition in various parenchymal organs, notably the liver, pancreas, joints, heart, pituitary gland and skin, with resultant end-organ damage. Clinical features may be non-specific and include lethargy and malaise, or reflect target organ damage and present with abnormal liver tests, cirrhosis, diabetes mellitus, arthropathy, cardiomyopathy, skin pigmentation and gonadal failure. Early recognition and treatment (phlebotomy) is essential to prevent irreversible complications such as cirrhosis and hepatocellular carcinoma. The history of this condition dates as far back as 1865, but in the last decade great advances have been made. We discuss the genetics, pathophysiology, clinical features, diagnosis and management of a condition that could easily present to a generalist, and is an important diagnosis not to miss.

Journal Article.  6537 words.  Illustrated.

Subjects: Medicine and Health

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