Ontology highlight
ABSTRACT:
SUBMITTER: Mendez M
PROVIDER: S-EPMC4867561 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Méndez Manuel M Moreno-Carralero María-Isabel MI Morado-Arias Marta M Fernández-Jiménez María-Cristina MC de la Iglesia Iñigo Silvia S Morán-Jiménez María-José MJ
Molecular genetics & genomic medicine 20160113 3
<h4>Background</h4>X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow. XLSA is caused by mutations in the erythroid-specific gene coding 5-aminolevulinate synthase (ALAS2). Anemia in XLSA is extremely variable, characteristically microcytic and hypochromic with poikilocytosis, and the red blood cell distribution width is increased and prominent dimorphism of the red cell population. ...[more]