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Hereditary Hemochromatosis – Is Screening Useful?

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Andreas Sönnichsen

QuestionHereditary haemochromatosis is one of the most frequent recessively inherited disorders, especially in the Northern regions of Europe. It may lead to exessive iron overload causing liver cirrhosis, „bronze-diabetes“, cardiomyopathy and other organ damage. Individuals affected can be identified easily by genetic testing and treated effectively. Wouldn’t it therefore make sense to screen the population?AnswerAlthough the genetic mutation causing hereditary hemochromatosis is quite frequent in the population, a general population based screening is not recommended. The number and quality of studies addressing this topic is unsatisfactory. There are no reliable predictors who will develop relevant clinical hemochromatosis when the genetic test is positive. Only 10 % of those with a positive genetic test will ever develop symptomatic disease. A screening of risk groups like first grade relatives of patients with hemochromatosis is recommended by some authors – without a sound evidence base, however, because it remains unclear whether a start of treatment at an asysmptomatic stage is superior to beginning treatment when initial symptoms are already present.


(State: 15.01.2019)

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