贫血，铁粒幼细胞，1
基因病名称(英)
Anemia, sideroblastic, 1
别名(英)
Anemia, sideroblastic, X-linked,ANH1,Hereditary iron-loading anemia,Hereditary sideroblastic anemia,Hypochromic anemia,XLSA
别名
贫血，铁粒幼细胞，X连锁，ANH1，遗传性铁负荷性贫血，遗传性铁粒幼细胞性贫血，低色素性贫血，XLSA
统计
reviewed:1; annotated:0
交叉引用
300751,C0221018,D000747,D000756
描述(英)
A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of 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
一种铁粒幼细胞性贫血，对药理学剂量的吡哆醇表现出不同的血液学反应。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。