A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10­_11delinsAA] causing elevated Hb A2 level

oleh: Liang Liang, Shuting Ning, Xiaocai Lu, Yingwei Li, Mao Tian, Ting Qin, Youqiong Li

Format: Article
Diterbitkan: Taylor & Francis Group 2022-12-01

Deskripsi

Objectives To report the hematolgocial and molecular features of a nove β-globin variant in a Chinese fimaly.Methods The proband was a 19-year-old Chinese man whose Hb analysis by HPLC for thalassemia revealed an abnormal peak. Hb analysis was performed by HPLC and CE. Gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB) were used to detect the common mutations in Chinese population. DNA sequencing was used to determine the Hb variant.Results The Hb variant and Hb A can be separated but co-elutes with Hb F by the CE method. However, the variant can be separated from Hb A0, Hb F, and Hb A2 using HPLC. DNA sequencing showed a mutation of codon 3 in the β-globin gene. His wife’s HPLC revealed a high value of Hb A2, which proved to be the Hb E using PCR-RDB.Conclusion It was the first report of the mutation, so we named it Hb Jiangnan according to the place of residence of the proband. It can be separated by HPLC but not CE. Hb Jiangnan can cause an increased level of Hb A2.