Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

被引：18

作者：

Heeney, Matthew M. ^{[1
,2
,3
]}

Guo, Dongjing ^{[3
]}

De Falco, Luigia ^{[4
,5
]}

Campagna, Dean R. ^{[6
]}

Olbina, Gordana ^{[7
]}

Kao, Paige P. -C. ^{[3
]}

Schmitz-Abe, Klaus ^{[8
]}

Rahimov, Fedik ^{[9
]}

Gutschow, Patrick ^{[7
]}

Westerman, Keith ^{[7
]}

Ostland, Vaughn ^{[7
]}

Jackson, Tracy ^{[10
]}

Klaassen, Robert E. ^{[10
]}

Markianos, Kyriacos ^{[6
]}

Finberg, Karin E. ^{[11
]}

Iolascon, Achille ^{[4
,5
]}

Westerman, Mark ^{[7
]}

London, Wendy B. ^{[1
,2
,3
]}

Fleming, Mark D. ^{[6
]}

机构：

[1] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

[2] Dana Farber Canc Inst, Boston, MA 02115 USA

[3] Harvard Med Sch, Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA

[4] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Med Sch, Naples, Italy

[5] CEINGE Biotecnol Avanzate, Naples, Italy

[6] Boston Childrens Hosp, Dept Pathol, Bader 139-1,BCH 3027,300 Longwood Ave, Boston, MA 02115 USA

[7] Intrins LifeSci, La Jolla, CA USA

[8] Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USA

[9] Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA USA

[10] Childrens Hosp Eastern Ontario, Div Pediat Hematol Oncol, Ottawa, ON, Canada

[11] Yale Univ, Dept Pathol, New Haven, CT USA

来源：

BLOOD | 2018年 / 132卷 / 04期

基金：

美国国家卫生研究院;

关键词：

ANEMIA;

D O I：

10.1182/blood-2017-03-773028

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：448 / 452

页数：5

共 6 条

[1] Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
De Falco, Luigia
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[2] Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory
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[3] The serine protease TMPRSS6 is required to sense iron deficiency
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[J]. SCIENCE, 2008, 320 (5879) : 1088 - 1092
[4] Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
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Aydinok, Yesim
Pearson, Howard A.
Hartman, Kip R.
Mayo, Mary M.
Samuel, Stewart M.
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[J]. NATURE GENETICS, 2008, 40 (05) : 569 - 571
[5] Immunoassay for human serum hepcidin
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[J]. BLOOD, 2008, 112 (10) : 4292 - 4297
[6] Hepcidin in the diagnosis of iron disorders
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[J]. BLOOD, 2016, 127 (23) : 2809 - 2813

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