Details

Autor(en) / Beteiligte

• Qin, Yan-Ye
• Huang, Xiao-Juan
• Ma, Yue-Liao
• Qin, Jiao-Xiu
• Liang, Liang
• Li, You-Qiong

Titel

Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene

Ist Teil von

• Hemoglobin, 2021, Vol.45 (5), p.332-334

Ort / Verlag

Taylor & Francis

Erscheinungsjahr

2021

Link zum Volltext

Beschreibungen/Notizen

• We report a novel hemoglobin (Hb) variant found in a Chinese individual from the Guangxi Zhuang Autonomous Region of the People's Republic of China. The proband was a 6-month-old boy who came from Dahua county, Hechi City. Capillary zone electrophoresis (CZE) showed an abnormal peak (51.2%) in zone 13. However, capillary isoelectric focusing electrophoresis (CIFE) presented an unknown peak in zone Bart's (51.4%). High performance liquid chromatography (HPLC) displayed an unknown peak (42.1%) at retention time 2.44 min., eluting before Hb A 0 . Direct DNA sequencing of the β-globin gene revealed heterozygosity for a missense mutation at codon 59 (AAG>ATG), causing a lysine to methionine substitution [β59(E3)Lys→Met; HBB: c.179A>T]. We decided to name the variant Hb Dahua for the place of origin of the proband.