Article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
American journal of hematology - 1 Mar 2014
Campagna Dean R, de Bie Charlotte I, Schmitz-Abe Klaus, Sweeney Marion, Sendamarai Anoop K, Schmidt Paul J, Heeney Matthew M, Yntema Helger G, Kannengiesser Caroline, Grandchamp Bernard, Niemeyer Charlotte M, Knoers Nine V A M, Swart Sonia, Marron Gordon, van Wijk Richard, Raymakers Reinier A, May Alison, Markianos Kyriacos, Bottomley Sylvia S, Swinkels Dorine W, Fleming Mark D
Abstract excerpt
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...
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