Non-HFE haemochromatosis in Australia: natural history and molecular characterisation

遗传性血色素沉着病（HH）是一种以铁吸收过多和铁在肝脏等身体器官中积聚为特征的疾病。过量的铁是有毒的，会导致疾病。大多数HH是由HFE基因突变引起的。其他形式是由其他基因的突变引起的。该项目将描述一种与任何先前已知基因无关的新形式的HH。该项目旨在通过对一个大家庭的遗传分析来找到这种新疾病的基因。

Hereditary haemochromatosis (HH) is a disorder characterised by excessive iron absorption and build up of iron in body organs such as the liver. The excess iron can be toxic and cause disease. Most HH is caused by mutations in the HFE gene. Other forms are caused by mutations in other genes. This project will characterise a new form of HH that is unrelated to any of the previously known genes. The project aims to find the gene for this new condition by genetic analysis in a large family.