Chen Qiuying, Bouhassira Eric E, Besse Arnaud, Suzuka Sandra M, Fabry Mary E, Nagel Ronald L, Hirsch Rhoda Elison
Department of Medicine/Hematology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Blood Cells Mol Dis. 2004 Nov-Dec;33(3):303-7. doi: 10.1016/j.bcmd.2004.07.006.
Hemoglobin E (HbE, beta26 Glu-->Lys) is the most common abnormal Hb variant in the world, and found in greatest frequency in Southeast (SE) Asia. In the United States, HbE is the third most prevalent variant (after HbS and HbC); and its now increasing frequency is due to immigration from SE Asia. HbE homozygotes present a benign clinical picture, but when HbE is coupled with beta0-thalassemia or HbS, variably severe hemoglobinopathies arise. To date, there are no transgenic animal models of HbE-related diseases. We report here the creation of transgenic mice expressing human HbE as a step toward creating animal models for HbE-related diseases. The betaE mice exhibit red blood cell hypochromia and target cells consistent with those observed in human patients exhibiting HbE trait. Furthermore, the transgenic HbE hemolysates contain increased amounts of Hb oxidation products.
血红蛋白E（HbE，β26谷氨酸→赖氨酸）是世界上最常见的异常血红蛋白变体，在东南亚地区出现的频率最高。在美国，HbE是第三大流行变体（仅次于HbS和HbC）；其频率的不断增加是由于来自东南亚的移民。HbE纯合子呈现良性临床症状，但当HbE与β0地中海贫血或HbS结合时，会出现不同程度的严重血红蛋白病。迄今为止，尚无与HbE相关疾病的转基因动物模型。我们在此报告表达人HbE的转基因小鼠的创建，这是朝着创建与HbE相关疾病的动物模型迈出的一步。βE小鼠表现出红细胞低色素症和靶形细胞，这与表现出HbE特征的人类患者中观察到的情况一致。此外，转基因HbE溶血产物中Hb氧化产物的含量增加。
