High HFE mutation incidence in idiopathic erythrocytosis

被引：12

作者：

Burlet, Benedicte ^{[1
]}

Bourgeois, Valentin ^{[1
]}

Buriller, Celine ^{[2
]}

Aral, Bernard ^{[2
]}

Airaud, Fabrice ^{[3
]}

Garrec, Celine ^{[3
]}

Bezieau, Stephane ^{[3
,4
]}

Gardie, Betty ^{[4
,5
]}

Girodon, Francois ^{[1
,6
,7
]}

机构：

[1] CHU Dijon, Pole Biol, Serv Hematol Biol, Dijon, France

[2] CHU Dijon, Pole Biol, Lab Genet Chromosom & Mol, Dijon, France

[3] CHU Nantes, Serv Genet Med, Nantes, France

[4] UNIV Nantes, CNRS, INSERM, Inst Thorax, Nantes, France

[5] PSL Res Univ, EPHE, Ecole Prat Hautes, Paris, France

[6] Lab Excellence GR Ex, Paris, France

[7] Univ Bourgogne, Inserm U1231, Dijon, France

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2019年 / 185卷 / 04期

关键词：

HFE mutations; idiopathic erythrocytosis; iron overload;

D O I：

10.1111/bjh.15631

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：794 / 795

页数：2

共 5 条

[1]

Biagetti V., 2018, BRIT J HAEMATOL, V181, P252

[2] HFE gene and hereditary hemochromatosis:: A HuGE review [J].

Hanson, EH ;

Imperatore, G ;

Burke, W .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2001, 154 (03) :193-206

[3] Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene [J].

Hermine, Olivier ;

Dine, Gerard ;

Genty, Vincent ;

Marquet, Laurie-Anne ;

Fumagalli, Gabriela ;

Tafflet, Muriel ;

Guillem, Flavia ;

Van Lierde, Francoise ;

Rousseaux-Blanchi, Marie-Philippe ;

Palierne, Christian ;

Lapostolle, Jean-Claude ;

Cervetti, Jean-Pierre ;

Frey, Alain ;

Jouven, Xavier ;

Noirez, Philippe ;

Toussaint, Jean-Francois .

BIOCHIMIE, 2015, 119 :1-5

[4] Global prevalence of putative haemochromatosis mutations [J].

MerryweatherClarke, AT ;

Pointon, JJ ;

Shearman, JD ;

Robson, KJH .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) :275-278

[5] Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis [J].

Ramos, Pedro ;

Guy, Ella ;

Chen, Nan ;

Proenca, Catia C. ;

Gardenghi, Sara ;

Casu, Carla ;

Follenzi, Antonia ;

Van Rooijen, Nico ;

Grady, Robert W. ;

de Sousa, Maria ;

Rivella, Stefano .

BLOOD, 2011, 117 (04) :1379-1389

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