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- W1994917236 abstract "Analyses for the C282Y and H63D mutations of the HFE gene in clinical1The UK Haemochromatosis ConsortiumAsimple genetic test identifies 90% of UK patients with haemochromatosis.Gut. 1997; 41: 841-844Crossref PubMed Scopus (230) Google Scholar and population2Burt MJ George PM Upton JD et al.Thesignificance of haemochromatosis gene mutations in the general population: implications for screening.Gut. 1998; 43: 830-836Crossref PubMed Scopus (207) Google Scholar samples allow the identification of healthy individuals who are at risk of hereditary haemochromatosis. Repeated phlebotomies are the only effective way to remove increased iron stores, and are required to prevent reaccumulation of iron in individuals at risk of haemochromatosis, thus affording them a normal life expectancy.3Niederau C Stremmel W Strohmeyer GWW Clinical spectrum and management of haemochromatosis.Baillieres Clin Haematol. 1994; 7: 881-901Summary Full Text PDF PubMed Scopus (40) Google Scholar Prophylactic periodic venesections arerecommended to carriers of mutations of the HFE gene, especially if they are homozygous. However, the units of blood thus obtained are thrown away, on the grounds that blood from individuals with genetic diseases is unsuitable for transfusion. In the Canary Islands, which has one of the highest rates of organ donors in the world,4Servicio Canario de SaludAnálisis del estado de salud de la poblacióy de los recursosdisponibles. Consejeria de Sanidad y Consumo del Gobiermo de Canarias, Las Palmas, GC1998: 188Google Scholar a chronic shortage of blood donations results in the frequent postponement of scheduled surgery. The blood units obtained from prophylactic venesections done only twice a year in the estimated 1 per 1000 population homozygous for the C282Y mutation of the HFE gene could boost by more than 5% the number of blood units in our region. We argue that blood from individuals with mutations of the HFE gene and no biochemical or haematological abnormalities (apart from the iron indices) could be safely used for blood transfusion, as must surely have happened in the past before the detection of these mutations. The present wasting of those blood resources is bad news for both the people with genetic haemochromatosis and for the general population." @default.
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- W1994917236 date "1999-07-01" @default.
- W1994917236 modified "2023-09-24" @default.
- W1994917236 title "Transfusion with blood from people with HFE gene mutations" @default.
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- W1994917236 doi "https://doi.org/10.1016/s0140-6736(05)75854-2" @default.
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