Skip to Main content Skip to Navigation
Journal articles

Haemochromatosis

Abstract : Summary Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors—especially alcohol consumption—and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research
Document type :
Journal articles
Complete list of metadatas

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01295665
Contributor : Laurent Jonchère <>
Submitted on : Thursday, March 31, 2016 - 2:17:06 PM
Last modification on : Wednesday, May 16, 2018 - 11:23:30 AM

Identifiers

Citation

Lawrie W Powell, Rebecca C Seckington, Yves Deugnier. Haemochromatosis. Lancet, Elsevier, 2016, 388 (10045), pp.706-16. ⟨10.1016/S0140-6736(15)01315-X⟩. ⟨hal-01295665⟩

Share

Metrics

Record views

105