α⁺-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

Abstract

A novel 811 bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People’s Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α⁺-thalassemia (α⁺-thal). This is the first report of this deletional thalassemia anywhere in the world.

Keywords:

• α⁺-Thalassemia (α⁺-thal)
• novel deletion
• thalassemia

Acknowledgments

The authors would like to thank Dr. Dev Sooranna, Imperial College London, London, UK for helping to edit the manuscript.

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 funded by the Guangxi Science and Technology Department [Gui 14124004-1 and Gui 1598012-21], the Health Department of Guangxi Province [Z2014146] and the Natural Science Foundation of China [81260093; 81370670].