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

Liang LiangShuting NingXiaocai LuYingwei LiMao TianTing QinYou-Qiong Li

Published in: Hematology (Amsterdam, Netherlands) (2022)

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

Keyphrases

ms ms
mass spectrometry