Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload

Am J Hematol. 2018 Mar;93(3):E58-E60. doi: 10.1002/ajh.24988. Epub 2017 Dec 8.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hypochromic / genetics*
  • Anemia, Hypochromic / therapy
  • Blood Transfusion
  • Cation Transport Proteins / genetics*
  • Exons / genetics
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Iron / analysis
  • Iron Overload
  • Liver / chemistry
  • Loss of Function Mutation*
  • Mutation, Missense*
  • Myocardium / chemistry
  • Pedigree

Substances

  • Cation Transport Proteins
  • solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2
  • Iron

Supplementary concepts

  • Anemia, hypochromic microcytic