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Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child
Hassan M Yaish1, Colin P Farrell2, Robert D Christensen3
1Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
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.
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