Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica. 2004 Oct;89(10):1261-3.

Abstract

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Adult
  • Age of Onset
  • Alleles
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / epidemiology
  • Anemia, Sideroblastic / genetics*
  • Erythropoiesis / genetics
  • Female
  • Frameshift Mutation
  • Genes, X-Linked*
  • Heterozygote
  • Humans
  • Iron Overload / etiology
  • RNA, Messenger / blood
  • Sequence Analysis, DNA
  • Sequence Deletion
  • X Chromosome Inactivation*

Substances

  • RNA, Messenger
  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human