Journal
AMERICAN JOURNAL OF HEMATOLOGY
Volume 89, Issue 3, Pages 315-319Publisher
WILEY
DOI: 10.1002/ajh.23616
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Funding
- NIH [R01 DK087992]
- US Department of Veterans Affairs
- Oklahoma Center for Advancement of Science and Technology
- Quality Foundation Funds Medical Specialists (SKMS) of The Netherlands Association of Medical Specialists (OMS)
- Project Anemia due to inherited disorders of iron metabolism [7387043]
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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. Am. J. Hematol. 89:315-319, 2014. (c) 2013 Wiley Periodicals, Inc.
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