Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH

Haematologica. 2008 Oct;93(10):1582-4. doi: 10.3324/haematol.12597. Epub 2008 Aug 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Sideroblastic / congenital*
  • Anemia, Sideroblastic / genetics*
  • Anemia, Sideroblastic / metabolism
  • Base Sequence
  • Child, Preschool
  • Ferrochelatase / genetics*
  • Ferrochelatase / metabolism*
  • Gene Expression Regulation, Enzymologic / genetics*
  • Genome, Human / genetics
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*

Substances

  • Ferrochelatase