Diagnosis and management of hereditary haemochromatosis

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 pr...

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Veröffentlicht in:	BMJ 2011-01, Vol.342 (7790), p.218-223
Hauptverfasser:	Bokhoven, M A van, Deursen, C Th B M van, Swinkels, D W
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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