title: Hb Matera (HBB: c.167 T > A): A Second Case Detected in a Pregnant Chinese Woman by the Capillary Electrophoresis Method.
abstract: 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.
authors.affiliation: a The Center of Reproduction and Genetic, People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi , People's Republic of China .
authors.forename: You-qiong
authors.initials: YQ
authors.lastname: Li
authors.affiliation: b Department of Clinical Laboratory , Laibing Maternal and Neonatal Hospital , Laibing , Guangxi , People's Republic of China , and.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Ye
authors.affiliation: c Department of Obstetrics and Gynecology , People's Hospital of Guangxi Zhuang Autonomous Region , Guangxi , People's Republic of China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Mo
mesh_terms: D003062:Codon; D019075:Electrophoresis, Capillary; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C065342:hemoglobin Matera
keywords: Capillary electrophoresis (CE); Hb Matera; high performance liquid chromatography (HPLC); thalassemia