Microcytic anaemia with low transferrin saturation, increased serum hepcidin and non-synonymous TMPRSS6 variants: not always iron-refractory iron deficiency anaemia

被引:2
作者
Donker, Albertine E. [1 ]
Brons, Paul P. T. [2 ]
Swinkels, Dorine W. [1 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Lab Med, Lab Genet Endocrine & Metab Dis, NL-6525 ED Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Dept Paediat Haematol & Oncol, NL-6525 ED Nijmegen, Netherlands
关键词
iron-refractory iron deficiency anaemia; TMPRSS6; gene; single nucleotide polymorphism; hepcidin; anaemia of chronic disease; DISORDERS;
D O I
10.1111/bjh.13186
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:150 / 151
页数:2
相关论文
共 10 条
[1]   TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia [J].
An, Peng ;
Wu, Qian ;
Wang, Hao ;
Guan, Yu ;
Mu, Mingdao ;
Liao, Yijun ;
Zhou, Daizhan ;
Song, Pengkun ;
Wang, Chunrong ;
Meng, Liping ;
Man, Qingqing ;
Li, Lixiang ;
Zhang, Jian ;
Wang, Fudi .
HUMAN MOLECULAR GENETICS, 2012, 21 (09) :2124-2131
[2]   Common variants in TMPRSS6 are associated with iron status and erythrocyte volume [J].
Benyamin, Beben ;
Ferreira, Manuel A. R. ;
Willemsen, Gonneke ;
Gordon, Scott ;
Middelberg, Rita P. S. ;
McEvoy, Brian P. ;
Hottenga, Jouke-Jan ;
Henders, Anjali K. ;
Campbell, Megan J. ;
Wallace, Leanne ;
Frazer, Ian H. ;
Heath, Andrew C. ;
de Geus, Eco J. C. ;
Nyholt, Dale R. ;
Visscher, Peter M. ;
Penninx, Brenda W. ;
Boomsma, Dorret I. ;
Martin, Nicholas G. ;
Montgomery, Grant W. ;
Whitfield, John B. .
NATURE GENETICS, 2009, 41 (11) :1173-1175
[3]   Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia [J].
Beutler, E. ;
Van Geet, C. ;
te Loo, D. M. W. M. ;
Gelbart, T. ;
Crain, K. ;
Truksa, J. ;
Lee, P. L. .
BLOOD CELLS MOLECULES AND DISEASES, 2010, 44 (01) :16-21
[4]   Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels [J].
Chambers, John C. ;
Zhang, Weihua ;
Li, Yun ;
Sehmi, Joban ;
Wass, Mark N. ;
Zabaneh, Delilah ;
Hoggart, Clive ;
Bayele, Henry ;
McCarthy, Mark I. ;
Peltonen, Leena ;
Freimer, Nelson B. ;
Srai, Surjit K. ;
Maxwell, Patrick H. ;
Sternberg, Michael J. E. ;
Ruokonen, Aimo ;
Abecasis, Goncalo ;
Jarvelin, Marjo-Riitta ;
Scott, James ;
Elliott, Paul ;
Kooner, Jaspal S. .
NATURE GENETICS, 2009, 41 (11) :1170-1172
[5]   Iron refractory iron deficiency anemia [J].
De Falco, Luigia ;
Sanchez, Mayka ;
Silvestri, Laura ;
Kannengiesser, Caroline ;
Muckenthaler, Martina U. ;
Iolascon, Achille ;
Gouya, Laurent ;
Camaschella, Clara ;
Beaumont, Carole .
HAEMATOLOGICA, 2013, 98 (06) :845-853
[6]   Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis [J].
Donker, Albertine E. ;
Raymakers, Reinier A. P. ;
Vlasveld, L. Thom ;
van Barneveld, Teus ;
Terink, Rieneke ;
Dors, Natasja ;
Brons, Paul P. T. ;
Knoers, Nine V. A. M. ;
Swinkels, Dorine W. .
BLOOD, 2014, 123 (25) :3873-3886
[7]   Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) [J].
Finberg, Karin E. ;
Heeney, Matthew M. ;
Campagna, Dean R. ;
Aydinok, Yesim ;
Pearson, Howard A. ;
Hartman, Kip R. ;
Mayo, Mary M. ;
Samuel, Stewart M. ;
Strouse, John J. ;
Markianos, Kyriacos ;
Andrews, Nancy C. ;
Fleming, Mark D. .
NATURE GENETICS, 2008, 40 (05) :569-571
[8]   Hepcidin in Human Iron Disorders: Diagnostic Implications [J].
Kroot, Joyce J. C. ;
Tjalsma, Harold ;
Fleming, Robert E. ;
Swinkels, Dorine W. .
CLINICAL CHEMISTRY, 2011, 57 (12) :1650-1669
[9]   TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals [J].
Nai, Antonella ;
Pagani, Alessia ;
Silvestri, Laura ;
Campostrini, Natascia ;
Corbella, Michela ;
Girelli, Domenico ;
Traglia, Michela ;
Toniolo, Daniela ;
Camaschella, Clara .
BLOOD, 2011, 118 (16) :4459-4462
[10]  
Nie Neng, 2014, BRIT J HAEMATOL, V166, P292, DOI [10.1111/bjh.12840, DOI 10.1111/BJH.12840]