Establishment of a cell model of X-linked sideroblastic anemia using genome editing
Loss-of-function mutation of the ALAS2 gene causes X-linked sideroblastic anemia (XLSA), and a number of missense or nonsense mutations of the ALAS2 gene have been reported to date as a cause of XLSA [1,2]. Although the presence of ring sideroblasts in bone marrow is a critical criterion for the diagnosis of sideroblastic anemia [3], it is still largely unknown how erythroblasts change to sideroblasts in a patient's bone marrow. It has been suggested that an excess of iron, which is not used for heme formation by ferrochelatase, accumulates in the mitochondrial matrix of erythroid precursor cells in patients with XLSA [4], and mitochondrial ferritin binds this iron to form iron deposits [5].
Source: Experimental Hematology - Category: Hematology Authors: Kiriko Kaneko, Yoshiko Kubota, Kazumi Nomura, Haruka Hayashimoto, Taisei Chida, Naoto Yoshino, Marina Wayama, Katsutoshi Ogasawara, Yukio Nakamura, Ikuo Tooyama, Kazumichi Furuyama Source Type: research