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

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

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.

Keywords: Anemia; Iron; Whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • 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
  • Membrane Proteins / genetics*
  • Mutation*
  • Serine Endopeptidases / genetics*
  • Whole Genome Sequencing

Substances

  • Biomarkers
  • Membrane Proteins
  • Serine Endopeptidases
  • TMPRSS6 protein, human

Supplementary concepts

  • Iron-Refractory Iron Deficiency Anemia