Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child.
- Resource Type
- Academic Journal
- Authors
- Yaish HM; Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: Hassan.Yaish@hsc.utah.edu.; Farrell CP; 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.; Christensen RD; Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; MacQueen BC; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Jackson LK; 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.; Trochez-Enciso J; 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.; Kaplan J; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Ward DM; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Salah WK; Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Phillips JD; 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; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
- Source
- Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0961 (Electronic) Linking ISSN: 10799796 NLM ISO Abbreviation: Blood Cells Mol Dis Subsets: MEDLINE
- Subject
- Language
- English
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.
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