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Van Wijngaarden P.,Afdeling Interne Geneeskunde | Hoskam J.,Afdeling Interne Geneeskunde | Koeken A.,Klinisch Chemisch en Hematologisch Laboratorium | Boer J.M.A.,Rijksinstituut Voor Volksgezondheid en Het Milieu RIVM | And 3 more authors.
Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde | Year: 2011

Hereditary hemochromatosis (HH) refers to several inherited disorders of iron metabolism leading to tissue iron overload. Several of these are caused by rare mutations like the N144H ferroportin-gene mutations. The ferroportin-gene mutations can be subdivided in 2 groups, the so called 'loss of function' and the 'gain of function' group. We describe two young men and one aged man with hereditary hemochromatosis due to a 'gain of function' ferroportin-gene mutation. The detection of the N144H ferroportin-gene mutation with the current hereditary hemochromatosis guideline in The Netherlands is discussed, as well as the pathophysiology of iron overload and the role of hepcidin as a possible diagnostic screening tool. The patients were diagnosed according to the Dutch guideline concerning hereditary hemochromatosis. In all patients the ratio serum hepcidin concentration/ferritin was normal. In case of hereditary hemochromatosis due to HFE gene mutations this ratio will be decreased. When iron overload has been diagnosed and testing for HFE gene mutation appears negative, the serum hepcidin/ferritin ratio prompts examining other gene mutations like the 'gain of function' ferroportin gene mutation.

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