<i><scp>HFE</scp></i> mutations in idiopathic erythrocytosis

Biagetti, Giacomo; Catherwood, Mark; Robson, Nuala; Bertozzi, Irene; Cosi, Elisabetta; McMullin, Mary Frances; Randi, Maria Luigia

doi:10.1111/bjh.14555

Cited by 15 publications

(34 citation statements)

References 9 publications

(13 reference statements)

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“…Our results confirm the results of Biagetti et al (), underlining the high incidence of HFE mutations in patients with idiopathic erythrocytosis.…”

Section: Laboratory Datasupporting

confidence: 93%

“…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.…”

contrasting

confidence: 99%

“…

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

Author contributionsFG and BB analysed the data and wrote the paper. FA, CG, SB, CB and VB performed the molecular analysis.

…”

mentioning

confidence: 99%

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High HFE mutation incidence in idiopathic erythrocytosis

et al. 2018

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“…Our results confirm the results of Biagetti et al (), underlining the high incidence of HFE mutations in patients with idiopathic erythrocytosis.…”

Section: Laboratory Datasupporting

confidence: 93%

contrasting

confidence: 99%

“…

Author contributionsFG and BB analysed the data and wrote the paper. FA, CG, SB, CB and VB performed the molecular analysis.

…”

mentioning

confidence: 99%

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High HFE mutation incidence in idiopathic erythrocytosis

et al. 2018

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“…Recently, Biagetti et al () and Burlet et al () demonstrated the recurrence of human haemacromatosis gene ( HFE , homeostatic iron regulator) single nucleotide variants (SNVs) in patients with idiopathic erythrocytosis (IE), postulating a link between variants in haemochromatosis genes and erythrocytosis. The most frequent HFE SNVs are C282Y (rs1800562 G>A) and H63D (rs1799945 C>G), reported in Caucasians at allelic frequencies of about 13% and 4%, respectively (https://www.omim.org).…”

Section: Patient Characteristics and Genotypesmentioning

confidence: 99%

Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations

et al. 2019

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“…Recently, Biagetti et al (2018) and Burlet et al (2019) demonstrated the recurrence of human haemacromatosis gene (HFE, homeostatic iron regulator) single nucleotide variants (SNVs) in patients with idiopathic erythrocytosis (IE), postulating a link between variants in haemochromatosis genes and erythrocytosis. The most frequent HFE SNVs are C282Y (rs1800562 G>A) and H63D (rs1799945 C>G), reported in Caucasians at allelic frequencies of about 13% and 4%, respectively (https://www.omim.org).…”

mentioning

confidence: 99%