Pornprasert Sakorn, Jaiping Kanokwan
Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University , Chiang Mai , Thailand and.
Hemoglobin. 2014;38(4):295-8. doi: 10.3109/03630269.2014.926913. Epub 2014 Jun 18.
A subject with Hb E (HBB: c.79G > A) trait is asymptomatic and can become a blood donor. However, a blood transfusion from a Hb E trait donor can affect β-thalassemia (β-thal) diagnosis. Blood samples from three Thai women were sent to the Associated Medical Sciences (AMS) Clinical Service Center, Chiang Mai, Thailand, for thalassemia diagnosis. Their Hb A2 levels, analyzed by high performance liquid chromatography (HPLC), were higher than 4.0%, thus they were diagnosed to have β-thal. However, elevated Hb A2 levels in these patients were not certain because the Hb A2 levels analyzed at the initial hospitalization and follow-up were controversial. In addition, there were some cases shown to have controversy between the increased Hb A2 level and red cell indices. The blood transfusion history was confirmed and hemoglobin (Hb) analysis was reanalyzed by capillary electrophoresis (CE). On the CE electrophoregram, Hb A2 levels were observed to be normal and Hb E peaks were present. Therefore, to rule out misdiagnosis and unnecessary genetic counseling, Hb analysis should be performed on the recipient prior to blood transfusions. Moreover, CE has a high efficiency to prevent the misinterpretation of Hb analysis in patients who receive blood transfusions from a donor carrying Hb E.
患有Hb E（HBB：c.79G > A）特质的个体没有症状，并且可以成为献血者。然而，来自具有Hb E特质献血者的输血可能会影响β地中海贫血（β-地贫）的诊断。三名泰国女性的血样被送往泰国清迈联合医学科学（AMS）临床服务中心进行地中海贫血诊断。通过高效液相色谱法（HPLC）分析，她们的Hb A2水平高于4.0%，因此被诊断为患有β-地贫。然而，这些患者Hb A2水平升高并不确定，因为在初次住院和随访时分析的Hb A2水平存在争议。此外，有一些病例显示Hb A2水平升高与红细胞指数之间存在争议。确认了输血史，并通过毛细管电泳（CE）重新分析了血红蛋白（Hb）。在CE电泳图上，观察到Hb A2水平正常且存在Hb E峰。因此，为了排除误诊和不必要的遗传咨询，在输血前应对受血者进行Hb分析。此外，CE对于防止在接受来自携带Hb E的献血者输血的患者中错误解读Hb分析具有很高的效率。
