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

D.R. Campagna, C.I. de Bie, K. Schmitz-Abe, M. Sweeney, A.K. Sendamarai, P.J. Schmidt, M.M. Heeney, H.G. Yntema, C. Kannengiesser, B. Grandchamp, C.M. Niemeyer, V.V.A.M. Knoers, S. Swart, G. Marron, H.A. van Wijk, R.A.P. Raijmakers, A. May, K. Markianos, S.S. Bottomley, D.W. SwinkelsM.D. Fleming

Research output: Contribution to journalArticleAcademicpeer-review


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
  • Adult
  • Aged
  • Anemia, Sideroblastic
  • Binding Sites
  • Enhancer Elements, Genetic
  • Europe
  • Female
  • GATA Transcription Factors
  • Genetic Diseases, X-Linked
  • Genotype
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Young Adult
  • Journal Article
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.


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