Inherited Iron Overload

Abstract

Several inherited forms of iron overload have been described. It is now accepted that HC, usually regarded as a disease of adult life, is an inherited disorder, hence all first degree relatives must be presumed to be at increased risk of developing iron overload and the diagnosis is now frequently made in young relatives. The combination of serum iron, transferrin saturation and serum ferritin determination will detect iron overload in an early, precirrhotic stage. Liver biopsy and the determination of hepatic iron concentration provide the definitive proof. Where HC is recognized sufficiently early to permit adequate removal of iron before cirrhosis has developed, the prognosis is excellent. Thus haemochromatosis as a clinical disease should be preventable in a large proportion of patients. Severe iron overload has been described in juveniles and also in neonates. These conditions are familial but whether they are HLA-related has not been determined. Cardiac and endocrine disorders are frequently the presenting manifestations of parenchymal iron overload in the young and, at least in neonates, the condition is usually fatal in early infancy. It is not possible at present, to say whether these rare juvenile and neonatal forms of haemochromatosis are related to the much more common adult form. Identification of the gene for HC may assist in answering this question.