贫血，铁粒幼细胞，2，吡哆醇难治
基因病名称(英)
Anemia, sideroblastic, 2, pyridoxine-refractory
别名(英)
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
别名
贫血，铁粒幼细胞，吡哆醇难治，常染色体隐性遗传
统计
reviewed:1; annotated:0
交叉引用
205950,C2673914,D000756
描述(英)
A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.
描述
一种对吡哆醇无反应的铁粒幼细胞性贫血。铁粒幼细胞性贫血的特征是不同严重程度的贫血、外周红细胞低色素、继发于慢性无效红细胞生成的全身性铁超负荷以及存在骨髓环状铁粒幼细胞。铁粒幼细胞的特征是聚集在细胞核周围的载铁线粒体。