Hereditary haemochromatosis (HH) is an adult-onset disorder characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, resulting in excessive storage of iron, particularly in the liver, pancreas, heart, joints, and testes. The diagnosis of HH in individuals with clinical symptoms consistent with HH and /or biochemical evidence of iron overload is typically based on screening serum transferrin-iron saturation (>45%) and serum ferritin concentration (>/=300µg/L men, >/=200µg/L women) and on confirmatory tests such as histologic assessment of hepatic iron stores on liver biopsy and/or molecular genetic testing for the C282Y and H63D variants in the HFE gene. HH genotyping is offered as a real-time Taqman assay for the C282Y and H63D variants.
Factors affecting results or interpretation: Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis. Samples must be clearly labelled with the patients first name, surname, D.O.B, hospital number and the date the sample was taken. The details on the sample must correspond to the request form. Unlabelled samples will not be accepted.