Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome
Zhen-Min Ren1, Zhi-Hao Xing1, Shi-Lin Chen2
1Department of Laboratory Medicine, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, People's Republic of China.
Abstract:
With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency through whole genome sequencing (WGS), which was verified by Sanger sequencing and polymerase chain reaction (PCR)-reverse dot-blot hybridization, respectively.
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