Haemochromatosis : phenotype to genotype or man to molecules
Date
2013-06
Authors
Jacobs, P.
Wood, L.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group (HMPG)
Abstract
This 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.
Description
The original publication is available at http://www.cmej.org.za/index.php/cmej
Keywords
Citation
jacobs, P. & Wood, L. 2013. Haemochromatosis : phenotype to genotype or man to molecules. Continuing Medical Education, 30(6):223-228.