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Hereditary haemochromatosis: to screen or not

BMJ 1999; 319 doi: (Published 28 August 1999) Cite this as: BMJ 1999;319:531

Conditions for screening are not yet fulfilled

  1. James E Haddow, medical director,
  2. Linda A Bradley, director, molecular genetics laboratory
  1. Foundation for Blood Research, PO Box 190, Scarborough, Maine 04070-0190, USA

    During the past several years hereditary haemochromatosis has risen from relative obscurity to become a topic of intense interest in the health community. Traditionally, hereditary haemochromatosis has been viewed as a rare inherited disorder, primarily of older men, that presents with life threatening complications such as “bronzed diabetes” (skin pigmentation, diabetes, and cirrhosis), primary liver cancer, or heart failure. Knowledge gained in the past 30 years, however, has shown that hereditary haemochromatosis occurs in as many as 5 in every 1000 white people of northern European heritage.1 The classic “bronzed diabetes” presentation is actually rare because it represents only a small proportion of affected individuals, usually those in whom the diagnosis has been missed for many years.2 This disorder more often presents in both men and women with non-specific medical complaints, such as abdominal pain, fatigue, sexual dysfunction, or joint pain, and hereditary haemochromatosis is often overlooked as a potential explanation.1 2 As iron loading progresses many organs and tissues can be damaged, leading to hepatic fibrosis and cirrhosis, primary liver cancer, endocrine dysfunction, cardiomyopathy, or arthropathy.1 2

    For over 10 years laboratory tests for assessing iron burden (transferrin saturation, serum ferritin) have been widely used in population screening, in conjunction with diagnostic …

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