Abstract:
:Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene. The four main types of non-HFE HH are caused by mutations in the hemojuvelin, hepcidin, transferrin receptor 2 and ferroportin genes. Juvenile haemochromatosis is an autosomal recessive disorder and can be caused by mutations in either hemojuvelin or hepcidin. An adult onset form of HH similar to HFE-HH is caused by homozygosity for mutations in transferrin receptor 2. The autosomal dominant iron overload disorder ferroportin disease is caused by mutations in the iron exporter ferroportin. The clinical characteristics and molecular basis of the various types of non-HFE haemochromatosis are reviewed. The study of these disorders and the molecules involved has been invaluable in improving our understanding of the mechanisms involved in the regulation of iron metabolism.
journal_name
World J Gastroenteroljournal_title
World journal of gastroenterologyauthors
Wallace DF,Subramaniam VNdoi
10.3748/wjg.v13.i35.4690subject
Has Abstractpub_date
2007-09-21 00:00:00pages
4690-8issue
35eissn
1007-9327issn
2219-2840journal_volume
13pub_type
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