Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child

被引：14

作者：

Yaish, Hassan M. ^{[1
]}

Farrell, Colin P. ^{[2
,3
,4
]}

Christensen, Robert D. ^{[1
,5
]}

MacQueen, Brianna C. ^{[5
]}

Jackson, Laurie K. ^{[2
,3
,4
]}

Trochez-Enciso, Jesus ^{[2
,3
,4
]}

Kaplan, Jerry ^{[6
]}

Ward, Diane M. ^{[6
]}

Salah, Walid K. ^{[1
]}

Phillips, John D. ^{[2
,3
,4
,6
]}

机构：

[1] Univ Utah, Sch Med, Dept Pediat, Div Hematol Oncol, Salt Lake City, UT USA

[2] Univ Utah, Ctr Iron & Heme Disorders, Salt Lake City, UT USA

[3] Univ Utah, Sch Med, Dept Med, Div Hematol Oncol, Salt Lake City, UT USA

[4] Univ Utah, Sch Med, Huntsman Canc Inst, Salt Lake City, UT USA

[5] Univ Utah, Sch Med, Dept Pediat, Div Neonatol, Salt Lake City, UT USA

[6] Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2017年 / 65卷

关键词：

Iron; Whole exome sequencing; Anemia; MOLECULAR-BASIS; SERUM HEPCIDIN;

D O I：

10.1016/j.bcmd.2017.04.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia.

引用

页码：38 / 40

页数：3