Diagnosis and management of hereditary haemochromatosis

• Published in: BMJ 2011-01, Vol.342 (7790), p.218-223
• Main Authors: Bokhoven, M A van, Deursen, C Th B M van, Swinkels, D W
• Format: Article
• Language: English
• Subjects: Anemia; Autosomal recessive inheritance; Biological organs; Biopsy; Blood; Blood transfusion; Clinical guidelines; CLINICAL REVIEW; Congenital diseases; Cytapheresis - methods; Defects; Diagnosis; Diagnosis, Differential; Early Diagnosis; Erectile dysfunction; Erythrocytes; Ferritins; Gastroenterology; Genes; Genetic mutation; Genetic screening; Genetic Techniques; Haemochromatosis; Hemochromatosis; Hemochromatosis - diagnosis; Hemochromatosis - genetics; Hemochromatosis - therapy; Heredity; Humans; Iron; Iron Chelating Agents - therapeutic use; Iron deficiency; Iron overload; Liver; Liver - pathology; Liver cirrhosis; Magnetic Resonance Imaging; Medical diagnosis; Medical genetics; Mortality; Mutation; Mutation - genetics; Pathophysiology; Patients; Phlebotomy; Phlebotomy - methods; Prevalence; Prognosis; Rodents; Symptoms; Transferrin - metabolism; Transferrins
• ISSN: 0959-8138; 0959-535X; 1468-5833; 1756-1833
• DOI: 10.1136/bmj.c7251

SUMMARY POINTS Hereditary haemochromatosis is an autosomal recessive disorder with a genetic prevalence of 0.4% in northern Europeans but a much lower clinical penetrance Those affected are at increased risk of cirrhosis of the liver and hepatocellular carcinoma Symptoms are often non-specific at presentation and include fatigue and arthropathy If transferrin saturation and serum ferritin are raised, test for C282Y mutation of the HFE gene First degree relatives of patients with clinically overt haemochromatosis can be screened for C282Y and H63D polymorphisms Regular phlebotomy is the main treatment, although newly developed therapeutic approaches show promise