Barron R, Grace N D, Sherwood G, Powell L W
Department of Medicine, Faulkner Hospital, Boston, Massachusetts.
Gastroenterology. 1989 Apr;96(4):1204-6. doi: 10.1016/0016-5085(89)91642-9.
Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.
特发性血色素沉着症是一种与人类白细胞抗原A3、B7和B14相关的遗传性疾病。有人提出人类白细胞抗原相关血色素沉着症与特发性难治性铁粒幼细胞贫血之间存在遗传关联，这可能使一些特发性难治性铁粒幼细胞贫血患者易发生严重的铁过载。对一名患有特发性难治性铁粒幼细胞贫血和血色素沉着症患者的家族研究显示，5名一级亲属中有2人血清铁蛋白显著升高，且存在共同的人类白细胞抗原单倍型，这支持了特发性难治性铁粒幼细胞贫血和严重铁过载患者至少有一个血色素沉着症等位基因的观点。
