Responsiveness to oral iron and ascorbic acid in a patient with IRIDA

被引：17

作者：

Cau, Milena ^{[1
]}

Galanello, Renzo ^{[1
,2
]}

Giagu, Nicolina ^{[2
]}

Melis, Maria Antonietta ^{[1
,2
]}

机构：

[1] Univ Cagliari, Dipartimento Sci Biomed & Biotecnol, I-09121 Cagliari, Italy

[2] Osped Reg Microcitemie ASL8 Cagliari, Cagliari, Italy

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2012年 / 48卷 / 02期

关键词：

TMPRSS6; IRIDA; Iron deficiency; Ascorbic acid; SERINE-PROTEASE; TMPRSS6; GENE; ANEMIA; MUTATIONS;

D O I：

10.1016/j.bcmd.2011.11.007

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Mutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive disorder characterized by hypochromic microcytic anemia not responsive to oral iron therapy and partially responsive to parenteral iron administration. Here we report a female infant homozygous for a loss of function mutation in TMPRSS6 gene, who responded to oral iron therapy when supplemented with ascorbic acid. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：121 / 123

页数：3

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