X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

Campagna, D. R., de Bie, C. I., Schmitz-Abe, K., Sweeney, M., Sendamarai, A. K., Schmidt, P. J., Heeney, M. M., Yntema, H. G., Kannengiesser, C., Grandchamp, B., Niemeyer, C. M., Knoers, N. V. A. M., Swart, S., Marron, G., van Wijk, R., Raymakers, R. A., May, A., Markianos, K., Bottomley, S. S., Swinkels, D. W. & Fleming, M. D., 2014, In : American Journal of Hematology. 89, 3, p. 315-319 5 p.

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  • X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

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  • Dean R Campagna
  • Charlotte I de Bie
  • Klaus Schmitz-Abe
  • Marion Sweeney
  • Anoop K Sendamarai
  • Paul J Schmidt
  • Matthew M Heeney
  • Helger G Yntema
  • Caroline Kannengiesser
  • Bernard Grandchamp
  • Charlotte M Niemeyer
  • Nine V A M Knoers
  • Sonia Swart
  • Gordon Marron
  • Richard van Wijk
  • Reinier A Raymakers
  • Alison May
  • Kyriacos Markianos
  • Sylvia S Bottomley
  • Dorine W Swinkels
  • Mark D Fleming

X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). Here, we report five families with XLSA owing to mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene. As such, this study defines a new class of mutations that should be evaluated in patients undergoing genetic testing for a suspected diagnosis of XLSA.

Original languageEnglish
Pages (from-to)315-319
Number of pages5
JournalAmerican Journal of Hematology
Issue number3
Publication statusPublished - 2014


  • 5-Aminolevulinate Synthetase/genetics, Adult, Aged, Anemia, Sideroblastic/blood, Binding Sites, Enhancer Elements, Genetic/genetics, Europe/ethnology, Female, GATA Transcription Factors/metabolism, Genetic Diseases, X-Linked/blood, Genotype, Humans, Introns/genetics, Male, Middle Aged, Mutation, Pedigree, Young Adult

ID: 75934752