A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively

Br J Haematol. 2012 Jul;158(1):143-5. doi: 10.1111/j.1365-2141.2012.09102.x. Epub 2012 Mar 20.
No abstract available

Publication types

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

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / blood
  • Anemia, Dyserythropoietic, Congenital / diagnosis
  • Anemia, Dyserythropoietic, Congenital / genetics*
  • Antimicrobial Cationic Peptides / blood
  • Asian People
  • DNA Mutational Analysis
  • GPI-Linked Proteins / genetics*
  • Hemochromatosis Protein
  • Hepcidins
  • Humans
  • Iron Overload / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Vesicular Transport Proteins / genetics*

Substances

  • Antimicrobial Cationic Peptides
  • GPI-Linked Proteins
  • HJV protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • SEC23B protein, human
  • Vesicular Transport Proteins