不稳定血红蛋白病(Unstable hemo-globin disease)是因血红蛋白中β或α珠蛋白肽链上氨基酸的替换或丢失,引起血红蛋白分子构型的不稳定,红细胞寿命缩短的一组慢性溶血性贫血。现已发现不稳定血红蛋白(UHb)大约有80种,其中多数出现临床症状,少数几种UHb并不引起贫血。病因及发病机理:本病由于遗传基因变异,珠蛋白肽链上的氨基酸发生替换或缺失,此种改变常发生在血红素与珠蛋白的结合部位,大多在β链,也可在α链, Unstable hemo-globin disease is a group of chronic hemolytic anemia that causes the unstable configuration of hemoglobin and the shortened life span of red blood cells due to the replacement or loss of amino acids in the β or α-globin peptide chains in hemoglobin. It has been found that there are about 80 unstable hemoglobin (UHb), the majority of which have clinical signs and the few UHb do not cause anemia. Etiology and pathogenesis: The disease due to genetic variation, globin peptide amino acid replacement or deletion, such changes often occur in the binding site of heme and globin, mostly in the beta chain, but also in the alpha chain,