Maeda M, Yamamoto M
Department of Pediatrics, Nippon Medical School.
Nihon Rinsho. 1996 Sep;54(9):2436-41.
The unstable hemoglobin disease result from the presence of a structurally abnormal hemoglobin variant with substitution or deletion of amino acid in the red cell. Characteristic of the unstable hemoglobin disease is the presence of inclusions of precipitated denatured hemoglobin called Heinz bodies in the red cells. Almost 200 unstable hemoglobins have now been identified. Hundred of these hemoglobins arise hemolysis or abnormal oxygen affinity, and another 100 hemoglobins have no hematological abnormalities but with instability on in vitro test. The inheritance pattern of the unstable hemoglobin is autosomal dominant. The most common causes of instability re amino acid substitutions that disrupt the alpha-helix of globin or alter the steric configuration of the hem pocket by the insertion of polar amino acid in the interior of the hemoglobin molecule, or deletion of amino acid in the helix. The unstable hemoglobins have a greater tendency to be spontaneously oxidized to methemoglobin with subsequent formation of hemichromes and precipitations.
不稳定血红蛋白病是由于红细胞中存在结构异常的血红蛋白变体，其氨基酸被替代或缺失。不稳定血红蛋白病的特征是红细胞中存在称为海因茨小体的变性血红蛋白沉淀包涵体。目前已鉴定出近200种不稳定血红蛋白。其中数百种血红蛋白会导致溶血或异常氧亲和力，另外100种血红蛋白虽无血液学异常，但在体外试验中表现出不稳定性。不稳定血红蛋白的遗传模式为常染色体显性遗传。不稳定的最常见原因是氨基酸替代，这会破坏珠蛋白的α螺旋，或通过在血红蛋白分子内部插入极性氨基酸来改变血红素口袋的空间构型，或使螺旋中的氨基酸缺失。不稳定血红蛋白更易自发氧化为高铁血红蛋白，随后形成半色素和沉淀。
