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

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, Syliva S. Bottomley, Dorine W. SwinkelsMark D. Fleming

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    29 Citations (Scopus)

    Abstract

    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
    Volume89
    Issue number3
    DOIs
    Publication statusPublished - Mar 2014

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    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., ... Fleming, M. D. (2014). X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal of Hematology, 89(3), 315-319. https://doi.org/10.1002/ajh.23616