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

澳大利亚的非 HFE 血色病：自然史和分子特征

• 批准号: nhmrc : 552412
• 负责人: Dr Daniel Wallace
• 金额: $ 12万
• 依托单位: Queensland Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2009
• 资助国家: 澳大利亚
• 起止时间: 2009-01-01 至 2010-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/non-hfe-haemochromatosis-molecular-characterisation/101351
• 关键词: Non; HFE; haemochromatosis; Australia; natural

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.

遗传性血色沉着症(HH)是一种以铁的过度吸收和体内器官(如肝脏)铁的积聚为特征的疾病。过量的铁可能是有毒的，并导致疾病。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。这个项目将描述一种新形式的HH，它与任何先前已知的基因都不相关。该项目旨在通过在一个大家庭中进行基因分析来寻找这种新疾病的基因。