Haemochromatosis

Lawrie W Powell; Rebecca C Seckington; Yves Deugnier

doi:10.1016/S0140-6736(15)01315-X

Haemochromatosis

Lancet. 2016 Aug 13;388(10045):706-16. doi: 10.1016/S0140-6736(15)01315-X. Epub 2016 Mar 12.

Authors

Lawrie W Powell¹, Rebecca C Seckington², Yves Deugnier³

Affiliations

¹ Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia. Electronic address: [email protected].
² Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
³ University Hospital and University of Rennes 1, Rennes, France.

PMID: 26975792
DOI: 10.1016/S0140-6736(15)01315-X

Abstract

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.

Publication types

Review

MeSH terms

Alcohol Drinking / adverse effects*
Cation Transport Proteins / genetics
Disease Management
Environmental Exposure
Europe / epidemiology
Ferritins / blood
Genetic Testing*
Genotype
Hemochromatosis Protein
Hemochromatosis* / diagnosis
Hemochromatosis* / genetics
Hemochromatosis* / physiopathology
Hemochromatosis* / therapy
Hepcidins / deficiency*
Histocompatibility Antigens Class I / genetics
Humans
Iron / metabolism*
Liver / drug effects
Liver / metabolism*
Liver Diseases / etiology
Liver Diseases / physiopathology
Liver Diseases / therapy
Mass Screening / methods
Mass Screening / standards
Membrane Proteins / genetics
Mutation*
Phenotype
Phlebotomy*
Polymorphism, Single Nucleotide
Receptors, Transferrin / genetics
Risk Factors
Sex Factors
Uncertainty
White People / genetics

Substances

Cation Transport Proteins
HFE protein, human
Hemochromatosis Protein
Hepcidins
Histocompatibility Antigens Class I
Membrane Proteins
Receptors, Transferrin
TFR2 protein, human
metal transporting protein 1
Ferritins
Iron