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

Campagna, Dean R., de Bie, Charlotte I., Schmitz-Abe, Klaus, Sweeney, Marion Carol ORCID: https://orcid.org/0000-0003-0713-0855, 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. and Fleming, Mark D. 2014. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal of Hematology 89 (3) , pp. 315-319. 10.1002/ajh.23616

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Blackwell
ISSN:	0361-8609
Last Modified:	25 Oct 2022 10:08
URI:	https://orca.cardiff.ac.uk/id/eprint/61217

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