Lethal ALAS2 mutation in males X-linked sideroblastic anaemia

Br J Haematol. 2017 Aug;178(4):648-651. doi: 10.1111/bjh.14164. Epub 2016 Jun 13.
No abstract available

Keywords: ALAS2; Haem; Red cells.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 5-Aminolevulinate Synthetase / chemistry
  • 5-Aminolevulinate Synthetase / genetics*
  • Amino Acid Sequence
  • Anemia, Sideroblastic / diagnosis
  • Anemia, Sideroblastic / genetics*
  • Bone Marrow / pathology
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Genes, Lethal*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Male
  • Models, Molecular
  • Mutation*
  • Pedigree
  • Phenotype
  • Protein Conformation

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human

Supplementary concepts

  • X-linked sideroblastic anemia