Miyazaki A, Nakanishi T, Kishikawa M, Shimizu A, Jozaki K, Yonezawa T
Department of Clinical Pathology, Osaka Medical College.
Intern Med. 1997 May;36(5):365-70. doi: 10.2169/internalmedicine.36.365.
Two members of a family had chronic hemolytic anemia due to unstable hemoglobin. The abnormal beta-chain with a molecular weight of 16 u smaller than the normal beta-chain was found within 5 minutes by analysis using electrospray ionization mass spectrometry. The substitution of amino acid was also determined rapidly by this new strategy. The leucine at the 88th position of the normal beta-chain was substituted by proline in the hemoglobin as in Hb Santa Ana. This is the first report of a Japanese case of Hb Santa Ana; the clinical course was similar to that in the previously reported cases.
一个家族中的两名成员患有因不稳定血红蛋白导致的慢性溶血性贫血。通过电喷雾电离质谱分析，在5分钟内就发现了分子量比正常β链小16 u的异常β链。采用这种新方法也能快速确定氨基酸的替换情况。正常β链第88位的亮氨酸在该血红蛋白中被脯氨酸取代，如同在圣安娜血红蛋白（Hb Santa Ana）中一样。这是日本首例圣安娜血红蛋白病例的报告；其临床病程与先前报道的病例相似。
