Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications

Br J Haematol. 2013 Nov;163(3):404-7. doi: 10.1111/bjh.12487. Epub 2013 Jul 24.
No abstract available

Keywords: India; atransferrinaemia; hypochromic microcytic anaemia; missense mutations; transferrin.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution*
  • Anemia, Hypochromic / blood
  • Anemia, Hypochromic / genetics*
  • Anemia, Hypochromic / therapy
  • Chelation Therapy
  • Child
  • Child, Preschool
  • Erythrocyte Indices
  • Female
  • Ferritins / blood
  • Hemosiderosis / blood
  • Hemosiderosis / drug therapy
  • Hemosiderosis / etiology*
  • Hepcidins / blood
  • Humans
  • Iron / blood
  • Iron Chelating Agents / therapeutic use
  • Male
  • Models, Molecular
  • Mutation, Missense*
  • Point Mutation*
  • Protein Conformation
  • Transferrin / chemistry
  • Transferrin / genetics*
  • Transfusion Reaction

Substances

  • Hepcidins
  • Iron Chelating Agents
  • Transferrin
  • Ferritins
  • Iron