RESUMO
We report a novel ß-globin chain variant, Hb Shenzhen [ß90(F6)GluâAla, HBB: c.272A>C], in a 52-year-old Chinese individual. The hemoglobin (Hb) variant takes the position of the Hb D zone using capillary electrophoresis. Sanger sequencing revealed a novel base mutation on the ß-globin gene, HBB: c.272A>C, that resulted in a transition of glutamic acid to alanine at exon 2 of the ß-globin gene. We named this novel variant Hb Shenzhen for the geographic origin of this proband.
Assuntos
Hemoglobinas Anormais/genética , Mutação de Sentido Incorreto , Globinas beta/genética , Povo Asiático , Eletroforese Capilar , Humanos , Pessoa de Meia-Idade , Mutação Puntual , Análise de Sequência de DNARESUMO
We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A1c program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ ß-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)ThrâIle, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the proband.