A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB :c.10-_11delinsAA] causing elevated Hb A 2 level.

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 A ₀ , Hb F, and Hb A ₂ 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 A ₂ , 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 A _2.