Screening for hereditary haemochromatosis

摘要: Hereditary haemochromatosis (HH) is a common autosomal recessive disorder of iron overload in Caucasian populations. Clinical manifestations usually occur individuals homozygous for the C282Y mutation HFE gene product and who have developed significant loading. Current screening methods can detect affected either prior to or early during disease evolution, enabling introduction phlebotomy treatment that normalise life expectancy. Evaluation possible overload, via measurement serum transferrin saturation ferritin level, most appropriate initial test those subjects presenting clinically evaluation. genotyping, when combined with biochemical measurements, defines presence likely underlying genetic preferred modality families an individual. Definitive proof requires hepatic concentration total burden therapeutic phlebotomy; elevated level alone not adequate. We now recognise natural history HH as discrete previously believed, because environmental modifiers penetrance are increasingly identified influencing clinical expression HH. In fact, minority homozygotes develop classical 'iron disease', although it has recently emerged may predispose breast colorectal cancer. Uncertainties true impact condition at population lead current recommendations cascade patients, case-finding high-risk groups, such patients consistent diagnosis, high awareness community facilitate diagnosis. Generalised presently recommended.