Haemochromatosis : phenotype to genotype or man to molecules

dc.contributor.authorJacobs, P.
dc.contributor.authorWood, L.
dc.identifier.citationjacobs, P. & Wood, L. 2013. Haemochromatosis : phenotype to genotype or man to molecules. Continuing Medical Education, 30(6):223-228.en_ZA
dc.identifier.issn2078-5143 (online)
dc.identifier.issn0256-2170 (print)
dc.descriptionThe original publication is available at
dc.description.abstractThis is the third in our vignettes that are centred on everyday clinical presentations. Each emphasises practical aspects of team-based care that are applicable to general practitioners, specialists and paramedical professionals alike. Iron-overload syndromes, whether genetically or environmentally determined, increase morbidity and mortality. Familial haemochromatosis, as the prototype, may have a prolonged subclinical phase before presenting with dermatological, hepatic, pancreatic, cardiac, musculoskeletal or endocrine symptoms and signs. Improved understanding of iron metabolism, coupled with genetic testing, underlines current approaches to screening, diagnosis and proactive multidisciplinary management encompassing appropriate family studies. These changed circumstances strongly emphasise the need for much wider appreciation of hazards associated with accumulation of this trace metal above physiological limits and benefits of early, or pre-emptive, correction.en_ZA
dc.description.sponsorshipHaemotological Research Trusten_ZA
dc.description.sponsorshipLouis Shill Foundationen_ZA
dc.format.extent6 p. : col. ill.
dc.publisherHealth and Medical Publishing Group (HMPG)en_ZA
dc.subject.lcshLiver function testsen_ZA
dc.subject.lcshIron -- Metabolism -- Disordersen_ZA
dc.subject.lcshLiver -- Diseases -- Diagnosisen_ZA
dc.subject.lcshHemachromatosis -- Diagnosisen_ZA
dc.subject.lcshHemachromatosis -- Treatmenten_ZA
dc.titleHaemochromatosis : phenotype to genotype or man to moleculesen_ZA
dc.description.versionPublishers' Versionen_ZA
dc.rights.holderAuthors retain copyrighten_ZA

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