Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation

Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26.


The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia during the follow-up of six patients with an ALAS2 mutation and seven patients with an SLC25A38 mutation. We described in depth the clinical, biological and radiological phenotype of these patients at diagnosis and during follow-up and highlighted our results with a review of available evidence and data on the management strategies for congenital sideroblastic anemia. This report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications. The use of an international registry would certainly help defining recommendations for the management of these rare disorders to improve patient outcome.

Keywords: ALAS2; Children; Congenital sideroblastic anemia; Iron overload; SLC25A38.

Publication types

  • Multicenter Study

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Anemia, Sideroblastic / congenital*
  • Anemia, Sideroblastic / genetics
  • Child
  • Humans
  • Iron Overload
  • Mitochondrial Membrane Transport Proteins / genetics*
  • Phenotype
  • Retrospective Studies


  • Mitochondrial Membrane Transport Proteins
  • Slc25a38 protein, human
  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human