Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

Ann Hematol. 2020 Feb;99(2):371-373. doi: 10.1007/s00277-019-03894-6. Epub 2019 Dec 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 5-Aminolevulinate Synthetase / chemistry
  • 5-Aminolevulinate Synthetase / genetics*
  • Adult
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / genetics*
  • Bone Marrow / pathology
  • Cell Survival
  • Erythroblasts / pathology
  • Exome Sequencing
  • Exons / genetics
  • Female
  • Genes, X-Linked / genetics
  • Genetic Diseases, X-Linked / genetics*
  • Heterozygote
  • Humans
  • Iron Overload / diagnostic imaging
  • Iron Overload / etiology
  • Magnetic Resonance Imaging
  • Models, Molecular
  • Mutation, Missense*
  • Point Mutation*
  • Protein Conformation

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human