Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing
Year: 2025
Type: article
Study design: Case Report
Abstract: Background Thalassemia is one of the most common monogenic disorders worldwide and classified as α-thalassemia and β-thalassemia. Conventional methods for diagnosis of thalassemia, constrained by their focus on commonly known genotypes, can easily lead to missing or misdiagnosis of rare thalassemia genotypes. Case report We report the case of a 32-year-old pregnant woman with abnormal hematological parameters. Conventional gap polymerase chain reaction (Gap-PCR) and PCR-reverse membrane hybridization (PCR-RDB) were performed to analysis the 23 common thalassemia variants, but did not identify any pathologic variants. Next, we used PacBio third-generation sequencing platform based on single molecule real-time technology (SMRT) for this woman and her newborn and identified a novel 9.159-kb large deletion (chr16:165599-174758, GRCh38) of α-globin gene loci, which disrupted HBA2 gene. And the breakpoints of the deletion were validated by gap-PCR and sanger sequencing. Conclusion Our study identified a novel large deletion, which expanded the α-thalassemia gene variant spectrum and confirmed the efficiency of SMRT technology in detecting rare thalassemia variants, provided genetic counseling and prenatal intervention in clinical rare patients.
Source: Frontiers in Genetics
Authors: Shulin Wu, Zonghui Feng, Fuxiang Jiang, Min Zhao, Peng Jiang, Gang Xiao, Xian Zhang
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4416554416