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

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

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...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2017-06, Vol.65, p.38-40
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Substitution Anemia Anemia, Iron-Deficiency - diagnosis Anemia, Iron-Deficiency - drug therapy Anemia, Iron-Deficiency - genetics Anemia, Iron-Deficiency - metabolism Biomarkers Blood Cell Count DNA Mutational Analysis Erythrocyte Indices Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Infant Iron Membrane Proteins - genetics Mutation Serine Endopeptidases - genetics Whole exome sequencing Whole Genome Sequencing
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Beschreibung
Zusammenfassung:	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.
ISSN:	1079-9796 1096-0961
DOI:	10.1016/j.bcmd.2017.04.002