一对母婴中与难治性缺铁性贫血相关的TMPRSS6基因的两个新突变。

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

作者信息

Yaish Hassan M, Farrell Colin P, Christensen Robert D, MacQueen Brianna C, Jackson Laurie K, Trochez-Enciso Jesus, Kaplan Jerry, Ward Diane M, Salah Walid K, Phillips John D

机构信息

Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

Center for Iron and Heme Disorders, University of Utah, and Division of Hematology/Oncology, Department of Medicine and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.

出版信息

Blood Cells Mol Dis. 2017 Jun;65:38-40. doi: 10.1016/j.bcmd.2017.04.002. Epub 2017 Apr 9.

DOI:10.1016/j.bcmd.2017.04.002

PMID:28460265

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5656052/

Abstract

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.

摘要

在一名缺铁儿童中，口服铁剂反复未能改善病情。全外显子组测序在TMPRSS6基因中鉴定出一个先前报道的突变以及两个新突变，而其他与铁相关的基因未发现突变。我们认为这些突变导致了一种新型的难治性缺铁性贫血。