eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

without publication fees
2/2007
vol. 2
 
Share:
Send email
Share:
abstract:

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
View full text Get citation
 
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
Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2024 Termedia Sp. z o.o.
Developed by Bentus.