Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α⁰-Thalassemia in a Chinese Family

Abstract

We report a large novel α-globin cluster deletion that we named – –^PG (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5′ end to the RAB11FIP3 gene at the 3′ end of chromosome 16p13.3. This deletion removes all the globin distal regulatory elements as well as the whole α-globin gene cluster. Patients with heterozygous – –^PG/αα had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism, unusual facies or genital anomalies.

Keywords:

• α-Globin gene cluster
• α-thalassemia (α-thal)
• multiplex ligation-dependent probe amplification (MLPA)
• array comparative genomic hybridization (aCGH)

Acknowledgments

We are grateful to our current laboratory members for their helpful comments on 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 supported by the Natural Science Foundation of China [81660034], Natural Science Foundation of Guangxi [2016GXNSFAA380078; 2013GXNSFAA019247], the Health Department of Guangxi Province [S201613; Z2014146; Z2011060] and Guangxi Science and Technology Project [Gui 14124004-1-5; Gui 1598012-21].