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X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations
Author(s) -
Campagna Dean R.,
Bie Charlotte I.,
SchmitzAbe 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,
Wijk Richard,
Raymakers Reinier A.,
May Alison,
Markianos Kyriacos,
Bottomley Sylvia S.,
Swinkels Dorine W.,
Fleming Mark D.
Publication year - 2014
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23616
Subject(s) - sideroblastic anemia , missense mutation , intron , gata transcription factor , biology , enhancer , genetics , gene , mutation , microbiology and biotechnology , transcription factor , promoter , gene expression
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. © 2013 Wiley Periodicals, Inc.