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

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.
AuthorsFlavia Guillem, Sarah Lawson, Caroline Kannengiesser, Mark Westerman, Carole Beaumont, Bernard Grandchamp
JournalBlood (Blood) Vol. 112 Issue 5 Pg. 2089-91 (Sep 1 2008) ISSN: 1528-0020 [Electronic] United States
PMID18596229 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Nonsense
  • Membrane Proteins
  • DNA
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human
Topics
  • Adolescent
  • Anemia, Iron-Deficiency (blood, genetics, metabolism)
  • Base Sequence
  • Codon, Nonsense
  • DNA (genetics)
  • Exons
  • Female
  • Humans
  • Iron (blood)
  • Male
  • Membrane Proteins (deficiency, genetics)
  • Middle Aged
  • Pedigree
  • Serine Endopeptidases (deficiency, genetics)

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