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Hematology Volume 28, 2023 - Issue 1
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Case Report

Identification of double heterozygous -α4.2Ⅰ/-α4.2Ⅱ using third-generation sequencing

Liang Lianga Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
,
Yongjun Xiaob Department of clinical laboratory, The Second Nanning People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
,
Weilin Guoc Yaneng Biotechnology Corporation, Shenzhen, People’s Republic of ChinaView further author information
,
Tiantian Xied Berry Genomics Corporation, Beijing, People’s Republic of ChinaView further author information
,
Lihong Zhenga Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaView further author information
&
Youqiong Lia Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8640-7375View further author information
ORCID Icon
Article: 2250646 | Received 19 Jun 2023, Accepted 17 Aug 2023, Published online: 24 Aug 2023

References

  • Tesio N, Bauer DE. Molecular basis and genetic modifiers of thalassemia. Hematol Oncol Clin North Am. 2023;37(2):273–299. DOI:10.1016/j.hoc.2022.12.001
  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155–167. DOI:10.1016/S0140-6736(17)31822-6
  • Xiong F, Sun MN, Zhang XH, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang autonomous region of southern China. Clin Genet. 2010;78(2):139–148. DOI:10.1111/j.1399-0004.2010.01430.x
  • Charoenwijitkul T, Singha K, Fucharoen G, et al. Molecular characteristics of α+-thalassemia (3.7  kb deletion) in Southeast Asia: molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics. Clin Biochem. 2019;71:31–37. DOI:10.1016/j.clinbiochem.2019.06.005
  • Bao X, Wang J, Qin D, et al. The -α3.7III subtype of α+-thalassemia was identified in China. Hematology. 2022;27(1):826–830. DOI:10.1080/16078454.2022.2101913
  • Bowie LJ, Reddy PL, Nowak EM. alpha-thalassemia subtyping and the detection of silent mutations by high-resolution fragment analysis and DNA sequencing. Mol Diagn. 1998;3(1):43–53. DOI:10.1016/S1084-8592(98)80026-X
  • Chen SQ, Li HY, Chen Z, et al. Detection and analysis of the sub-types of -alpha3.7 in Chinese. Yi Chuan. 2003;25(6):649–651.
  • Chang JG, Liu TC, Chiou SS, et al. Rapid detection of –α4.2 deletion of α-thalassemia-2 by polymerase chain reaction. Ann Hematol. 1994;69:205–209. DOI:10.1007/BF02215955
  • Li YQ, Chen ZZ, Liang L. Analysis of the phenotype-genotype relationship of hemoglobin Q-Thailand in Guangxi. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33(2):164–168.
  • Jiang F, Mao AP, Liu YY, et al. Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing. Gene. 2022;825:146438. DOI:10.1016/j.gene.2022.146438
  • Li YQ, Liang L, Guo WL, et al. Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing. Clin Biochem. 2023;113:36–39. DOI:10.1016/j.clinbiochem.2022.12.010
  • Qin D, Wang J, Yao C, et al. Hb Q-Thailand heterozygosity unlinked with the (-α4.2/) α+-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses. Hematology. 2023;28:2184118. DOI:10.1080/16078454.2023.2184118

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