Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (–TTCT; HBB: c.124_127delTTCT) in a Chinese Girl

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.

Keywords:

• Hemoglobin (Hb)
• hemolytic anemia
• transfusion

Acknowledgements

The authors would like to thank the proband and her parents for allowing us to study them.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Guangxi Key Laboratory of Thalassemia Research [Grant 16-380-34].