CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Case report: Identification of a Novel 9.159-kb Deletion in a Chinese α-Thalassemia Family Using Single Molecule Real-Time Technology Sequencing
Provisionally accepted
- Huaihua City Maternal and Child Health Care Hospital, Huaihua, China
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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.
Keywords: α-thalassemia, SMRT, deletion, HBA2 gene, rare variant
Received: 20 Jul 2025; Accepted: 09 Oct 2025.
Copyright: © 2025 Shulin, Zonghui, Fuxiang, Min, Peng, Gang and Xian. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Xiao Gang, 22276363@qq.com
Zhang Xian, 1275663891@qq.com
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