Haemochromatosis: Phenotype to genotype or man to molecules

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.