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Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)

Fitzsimons, EJ; Cullis, JO; Thomas, DW; Tsochatzis, E; Griffiths, WJH; British Society for Haematology, .; (2018) Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). [Editorial comment]. British Journal of Haematology , 181 (3) pp. 293-303. 10.1111/bjh.15164. Green open access

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Abstract

Genetic haemochromatosis (GH) is one of the most frequentgenetic disorders found in Northern Europeans. GH is a condition caused by continued absorption of iron from the upper small intestine, despite normal, and then increased, total body iron. This leads to accumulation of iron in the tissues as the body has no means of getting rid of excess iron.In advanced disease, iron accumulation causes widespread tissue damage, including diabetes mellitus and cirrhosis. The disorder is inherited in autosomal recessive fashion. The gene involved lies close to the HLA-A region on chromosome 6. This updated guideline follows on from the previously published guideline commissioned by the British Committee forStandards in Haematology in February 2000 (Dooley & Wor-wood, 2000). This review and updated guidance coincides with the development of a separate guideline on the investigation and management of a raised serum ferritin, also commissioned by the BSH guidelines committee.

Type: Article
Title: Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/bjh.15164
Publisher version: https://doi.org/10.1111/bjh.15164
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: haemochromatosis, iron biochemistry, iron overload
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inst for Liver and Digestive Hlth
URI: http://discovery.ucl.ac.uk/id/eprint/10047172
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