Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

Blood. 2008 Sep 1;112(5):2089-91. doi: 10.1182/blood-2008-05-154740. Epub 2008 Jul 2.

Abstract

Genetic causes of hypochromic microcytic anemia include thalassemias and some rare inherited diseases such as DMT1 deficiency. Here, we show that iron deficiency anemia with poor intestinal absorption and defective iron utilization of IV iron is caused by inherited mutations in TMPRSS6, a liver-expressed gene that encodes a membrane-bound serine protease of previously unknown role that was recently reported to be a regulator of hepcidin expression.

Publication types

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

MeSH terms

  • Adolescent
  • Anemia, Iron-Deficiency / blood
  • Anemia, Iron-Deficiency / genetics*
  • Anemia, Iron-Deficiency / metabolism
  • Base Sequence
  • Codon, Nonsense*
  • DNA / genetics
  • Exons
  • Female
  • Humans
  • Iron / blood
  • Male
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Serine Endopeptidases / deficiency
  • Serine Endopeptidases / genetics*

Substances

  • Codon, Nonsense
  • Membrane Proteins
  • DNA
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human