两例基于糖化血红蛋白水平异常降低而鉴定出异常血红蛋白（镰仓血红蛋白）的病例。

Two cases in which an abnormal hemoglobin (Hb Kamakura) was identified on the basis of an abnormally low glycohemoglobin levels.

作者信息

Saisho Yoshifumi, Saitoh Fumitake, Tabata Mitsuhisa, Imafuku Toshio, Ogihara Tohru, Issiki Ikuko, Hattori Yukio, Yamashiro Yasuhiro

机构信息

Department of Internal Medicine, Hiratsuka City Hospital, Hiratsuka.

出版信息

Intern Med. 2003 Jul;42(7):595-8. doi: 10.2169/internalmedicine.42.595.

DOI:10.2169/internalmedicine.42.595

PMID:12879953

Abstract

We encountered two patients with abnormally low glycohemoglobin levels in spite of normal plasma glucose levels. Since the presence of an abnormal hemoglobin was suggested by high-performance liquid chromatography (HPLC), gene analysis of these two patients was conducted by single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing, and Hb Kamakura with one base substitution (beta3 Leu --> Val) in the beta globin gene was detected in both patients. There was been only one report of Hb Kamakura in Kanagawa Prefecture, and our patients represent the second and third cases, respectively.

摘要

我们遇到了两名患者，尽管其血浆葡萄糖水平正常，但糖化血红蛋白水平却异常低。由于高效液相色谱法（HPLC）提示存在异常血红蛋白，因此对这两名患者进行了单链构象多态性（SSCP）分析，随后进行直接测序的基因分析，在两名患者中均检测到了β珠蛋白基因中有一个碱基替换（β3 Leu→Val）的镰仓血红蛋白（Hb Kamakura）。在神奈川县仅有一篇关于镰仓血红蛋白的报道，而我们的患者分别代表了第二例和第三例病例。