A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population

Abstract

A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for α- and β-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing. Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu- Pro] is not easily detectable because it is extremely unstable, and the correct diagnosis is usually made via DNA sequencing. This is the first report of this variant in the Chinese population.

Keywords:

• Hb Mizuho
• abnormal hemoglobin
• hemolytic anemia
• next-generation sequencing
• Sanger sequencing

Acknowledgements

The authors appreciate all individuals who participated in this study.

Ethics statement

This study was approved by the Medical Ethics Committee at Guizhou Provincial People’s Hospital (approval number 2022–05).

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 work was supported by the Guizhou Provincial Science and Technology Projects [grant numbers 20191206, 20205011, 20192808].