Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

被引：87

作者：

Guillem, Flavia ^{[2
]}

Lawson, Sarah ^{[3
]}

Kannengiesser, Caroline ^{[2
]}

Westerman, Mark ^{[4
]}

Beaurnont, Carole ^{[1
]}

Grandchamp, Bernard ^{[1
,2
]}

机构：

[1] Univ Paris Diderot, INSERM, U773, Ctr Rech Biomed Bichat Beaujon CRB3, F-75018 Paris, France

[2] Hop Bichat Claude Bernard, APHP, Lab Genet & Biochim Hormonale, F-75877 Paris, France

[3] Birmingham Childrens Hosp, Dept Clin & Biol Haematol, Birmingham, W Midlands, England

[4] Intrins LifeSci, La Jolla, CA USA

来源：

BLOOD | 2008年 / 112卷 / 05期

关键词：

D O I：

10.1182/blood-2008-05-154740

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetic causes of hypochromic microcytic anemia include thalassemias and some rare inherited diseases such as DMT1 deficiency. Here, we show that iron deficiency anemia with poor intestinal absorption and defective iron utilization of IV iron is caused by inherited mutations in TMPRSS6, a liver-expressed gene that encodes a membrane-bound serine protease of previously unknown role that was recently reported to be a regulator of hepcidin expression.

引用

页码：2089 / 2091

页数：3

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