马泰拉血红蛋白（HBB：c.167 T > A）：通过毛细管电泳法在一名中国孕妇中检测出的第二例病例。
Hb Matera (HBB: c.167 T > A): A Second Case Detected in a Pregnant Chinese Woman by the Capillary Electrophoresis Method.
作者信息
Li You-qiong, Ye Li-Hua, Mo Yun
机构信息
a The Center of Reproduction and Genetic, People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi , People's Republic of China .
b Department of Clinical Laboratory , Laibing Maternal and Neonatal Hospital , Laibing , Guangxi , People's Republic of China , and.
出版信息
Hemoglobin. 2016;40(2):125-6. doi: 10.3109/03630269.2015.1106411.
Hb Matera (HBB: c.167 T > A) is an unstable β-globin gene variant with an ATG > AAG substitution at codon 55. Its coelution with Hb A2 on high performance liquid chromatography (HPLC) makes it difficult to discriminate between Hb Matera and Hb E (HBB: c.79 G > A) that also coelutes with Hb A2 in this method. However, we found that capillary electrophoresis (CE) was able to detect Hb Matera and discriminate it from Hb E, based on the quantification of the peaks and on hematological parameters.
马泰拉血红蛋白（HBB：c.167 T > A）是一种不稳定的β-珠蛋白基因变体，在密码子55处存在ATG > AAG替换。它在高效液相色谱（HPLC）上与血红蛋白A2共洗脱，使得在这种方法中难以区分马泰拉血红蛋白和同样与血红蛋白A2共洗脱的血红蛋白E（HBB：c.79 G > A）。然而，我们发现，基于峰的定量和血液学参数，毛细管电泳（CE）能够检测出马泰拉血红蛋白并将其与血红蛋白E区分开来。
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