eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
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2/2007
vol. 2
 
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Review paper
Hereditary haemochromatosis

Marek Hartleb
,
Jacek Pająk
,
Piotr Paleń
,
Katarzyna Roj

Przegląd Gastroenterologiczny 2007; 2 (2): 116–124
Online publish date: 2007/05/29
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Primary haemochromatosis is a genetic disorder in which impaired iron homeostasis is an effect of mutations in the HFE gene or other genes (e.g. hemojuvelin, hepcidin or ferroportin). Excessive intestinal absorption or disorders in intercellular circulation of iron are responsible for its progressive deposition in the parenchymal cells of the liver, pancreas, heart and other organs. The excess iron deposition results in functional insufficiency and cellular damage of the involved organs. There is general agreement that first-degree relatives of patients with hereditary haemochromatosis should be screened for the disease; however, a population screening strategy is still not established. In this article we review new pathophysiological concepts of haemochromatosis, as well as diagnostic and therapeutic principles in this disease.
keywords:

hereditary haemochromatosis, pathophysiology, diagnosis, treatment
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