1.
Circulation
; 129(11): 1263-4, 2014 Mar 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24637434
2.
Am J Hematol
; 89(3): 315-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24166784
RESUMO
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.