COMMENT
JOURNAL ARTICLE
REVIEW
Add like
Add dislike
Add to saved papers

Strategies for early diagnosis of haemochromatosis.

Genetic haemochromatosis is one of the most frequent inborn errors of metabolism. Only patients with early non-cirrhotic haemochromatosis treated by phlebotomies have a normal life expectancy. The present review analyses strategies for early diagnosis of haemochromatosis by using the Medline database and own data from a large cohort of patients with haemochromatosis. The still widely used approach to look for haemochromatosis in the presence of clinical complications such as liver disease will detect haemochromatosis in a considerable percentage of patients with Celtic origin. However, up to one half of these patients will already have an irreversible complication such as liver cirrhosis, diabetes mellitus or cardiomyopathy. In contrast, screening approaches of non-selected asymptomatic subjects using either determination of transferrin saturation and serum ferritin (phenotypic screening) or using genetic testing will detect haemochromatosis in most subjects in a precirrhotic stage without irreversible complications. Both phenotypic and genetic screening are highly cost-effective for detection of iron-loaded individuals in the general population. The current clinical approach to look for haemochromatosis in the presence of clinical disease is unacceptable. Only a more general type of screening in asymptomatic subjects including genetic testing will increase the rate of early diagnosis and will further improve the clinical outcome.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app