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• W2899643537 abstract "We read with interest the very relevant paper by Biagetti et al (2018), which reports some HFE mutations in idiopathic erythrocytosis, postulating that iron metabolism impairment is a possible underlying cause for erythrocytosis. We report here a similar study, but with a larger series of 132 patients with idiopathic erythrocytosis [115 males, 17 females (median age 52 years, range 17–79 years)] defined by an increased red cell mass without obvious cause (no JAK2 mutation in either exon 12 or 14, no heart or pulmonary disorder, etc.). Biological data are reported in Table 1. No haemochromatosis was known before genotyping. Written consent was obtained from all patients. Most of the patients were being treated with phlebotomy for their erythrocytosis. DNA samples were tested for the HFE single nucleotide polymorphisms (SNPs) using a polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay and the LightCycler® 480 real time PCR platform (Roche, Grenoble, France) with the corresponding TAQman SNP Genotyping Assays. Altogether, an HFE mutation was identified in 73 patients (55%) (Table 2): C282Y was noted in 18 patients (14 heterozygous, 3 compound heterozygous C282Y/H63D and C282Y/C65S, 1 homozygous), whereas a H63D variant was found in 56 patients (47 heterozygous, 3 compound heterozygous C282Y/H63D and H63D/C65S, and 6 homozygous) and a C65S mutation in 3 patients (1 heterozygous, 1 C282Y/C65S and 1 H63D/C65S). Compared with the results reported by Biagetti et al (2018), a higher proportion of HFE mutations was observed in our study (55% vs. 44%) due to a higher rate of H63D/wild type (wt) HFE mutation (35% vs. 25%). On the other hand, there was similar distribution for the other mutations. Our results confirm the results of Biagetti et al (2018), underlining the high incidence of HFE mutations in patients with idiopathic erythrocytosis. In the European population, C282Y and H63D mutations have been reported at frequencies of 3·8–9·2% and 13·6–22%, respectively (Merryweather-Clarke et al, 1997; Hanson et al, 2001). In comparison, the frequency of HFE C282Y mutations (14·8%) was slightly increased in our study, whereas the difference in H63D HFE mutations (40·1%) was more pronounced, both for heterozygous (35·6%) and homozygous (4·5%). One may easily imagine that HFE mutations may contribute to higher iron bioavailability, facilitating erythropoiesis. Of note, an increased haematocrit and haemoglobin level has been observed in HFE-knockout mice compared with HFE-wt mice, suggesting that HFE mutations might stimulate, or at least facilitate, the synthesis of red blood cells (Ramos et al, 2011). Finally, high HFE mutation rates (80%) have been reported in elite French athletes in comparison with the general population (27%), suggesting that iron availability may enhance performance through an improvement in erythropoiesis during endurance sports (Hermine et al, 2015). In conclusion, our results confirm that HFE mutations are frequently observed in patients with idiopathic erythrocytosis, and may participate in, or at least facilitate, an increase in the red cell mass. Further studies need to be performed to understand the biochemical and molecular impact of HFE on erythrocytosis This study was supported by grants from the Région Pays de la Loire, project “EryCan”; the ANR (PRTS 2015 “GenRED”) and the labex GR-Ex, reference ANR-11-LABX-0051. FG and BB analysed the data and wrote the paper. FA, CG, SB, CB and VB performed the molecular analysis. FG, BG and BA designed the study and critically reviewed the manuscript. All Authors have read and approved the final version. The authors have no conflicts of interest to disclose." @default.
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• W2899643537 date "2018-11-08" @default.
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• W2899643537 title "High <i> <scp>HFE</scp> </i> mutation incidence in idiopathic erythrocytosis" @default.
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• W2899643537 doi "https://doi.org/10.1111/bjh.15631" @default.
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