Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote

Br J Haematol. 2014 Aug;166(4):469. doi: 10.1111/bjh.12952. Epub 2014 May 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Anemia, Sideroblastic / blood
  • Anemia, Sideroblastic / genetics*
  • Child
  • Chromosomes, Human, X / genetics
  • Erythrocytes
  • Genetic Diseases, X-Linked / blood
  • Genetic Diseases, X-Linked / genetics*
  • Hemizygote
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense / genetics*

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human

Supplementary concepts

  • X-linked sideroblastic anemia