Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing. (4th May 2022)

• Record Type: Journal Article
• Authors: Ren, Zhen-Min; Xing, Zhi-Hao; Chen, Shi-Lin; Fu, Xiao-Ying; Chen, Yun-Sheng; Li, De-Fa
• Is Part Of: Hemoglobin. Volume 46:Number 3(2022)
• Page Start: 160
• Page End: 163
• Publication Date: 2022-05-04
• Subjects: Novel α deletion -- Hb H disease -- thalassemia -- whole genome sequencing (WGS); Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2070072
• Languages: English
• ISSNs: 0363-0269

Abstract

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.