Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (-TTCT; HBB: c.124_127delTTCT) in a Chinese Girl.
作者信息
Liu Jiaodi, Huang Yumei, Lei Yu, Lai Yongrong
机构信息
a Department of Hematology , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi , People's Republic of China.
出版信息
Hemoglobin. 2017 Mar;41(2):134-136. doi: 10.1080/03630269.2017.1321015. Epub 2017 Jun 5.
Abstract
Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] is a rare, unstable hemoglobin (Hb), variant. The main clinical presentation of this variant is hemolytic anemia. We detected this mutation in a 2-year-old Chinese girl with a history of regular transfusions. To the best of our knowledge, this is the first time that this variant has been found in the Asian population.
摘要
Zotero 插件