Article
Changing aspects of HFE-related hereditary haemochromatosis and endeavours to early diagnosis.
The Netherlands journal of medicine - 1 Dec 2007
Jacobs E M G, Verbeek A L M, Kreeftenberg H G, van Deursen C Th B M, Marx J J M, Stalenhoef A F H, Swinkels D W, de Vries R A
Abstract excerpt
HFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly prevalent homozygosity for the C282Y mutation in the HFE gene. The pathophysiology of this error in iron metabolism is not completely elucidated yet, although deficiency of the iron regulatory hormon...
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