1997
DOI: 10.1016/s0140-6736(05)63756-7
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Haemochromatosis Cys282Tyr mutation in pyridoxine-responsive sideroblastic anaemia

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Cited by 31 publications
(14 citation statements)
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“…Severe iron overload has recently been described in association with combined heterozygosity for H63D and C282Y mutations in one patient with hereditary sideroblastic anaemia (Yaouanq et al, 1997), although it has not been established that combined heterozygosity for these mutations has the same association with haemochromatosis as homozygosity for the C282Y mutation (Feder et al, 1996;Merryweather-Clarke et al, 1996). Venesection was successfully employed for reduction of iron overload in the patient described by Yaouanq et al (1997), as it was in our patients, providing encouragement for the feasibility of this therapeutic approach despite the presence of anaemia. Our findings indicate concurrent homozygosity for haemochromatosis is a cause of severe iron overload in patients with sustained haemolysis, and suggest there may be a similar association in other erythroid disorders in which there is enhanced erythropoietic activity.…”
Section: Discussionmentioning
confidence: 99%
“…Severe iron overload has recently been described in association with combined heterozygosity for H63D and C282Y mutations in one patient with hereditary sideroblastic anaemia (Yaouanq et al, 1997), although it has not been established that combined heterozygosity for these mutations has the same association with haemochromatosis as homozygosity for the C282Y mutation (Feder et al, 1996;Merryweather-Clarke et al, 1996). Venesection was successfully employed for reduction of iron overload in the patient described by Yaouanq et al (1997), as it was in our patients, providing encouragement for the feasibility of this therapeutic approach despite the presence of anaemia. Our findings indicate concurrent homozygosity for haemochromatosis is a cause of severe iron overload in patients with sustained haemolysis, and suggest there may be a similar association in other erythroid disorders in which there is enhanced erythropoietic activity.…”
Section: Discussionmentioning
confidence: 99%
“…There are two well-described mutations: C282Y and H63D. These are involved in the pathogenesis of hemochromatosis but even the heterozygosity for the HFE gene alone has a modifying effect on iron overload conditions [10]. In the study of Grobois et al [11]33 idiopathic acquired sideroblastic anemia patients were analyzed for HFE gene mutations.…”
Section: Discussionmentioning
confidence: 99%
“…Such conditions include the b-thalassaemias and congenital/inherited sideroblastic anaemias. 81,82 The selected studies include more than 50 subjects. Three systems of mutation nomenclature are in use for the HFE genes: amino acid (three-letter abbreviation), amino acid (single letter) or cDNA-based.…”
mentioning
confidence: 99%