Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 5
134
Views
0
CrossRef citations to date
0
Altmetric
Research Articles

Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene

ORCID Icon, , , , & ORCID Icon
Pages 290-295 | Received 20 May 2022, Accepted 22 Aug 2022, Published online: 22 Nov 2022

References

  • Cao A, Gossens M, Pirastu M. β Thalassaemia mutations in Mediterranean populations. Br J Haematol. 1989;71(3):309–312.
  • Lai K, Huang G, Su L, et al. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Sci Rep. 2017;7(1):1–11.
  • Yin Z, Qu S, Huang C, et al. Development of a genomic DNA reference material panel for thalassemia genetic testing. Int J Lab Hematol. 2020;42(5):510–517.
  • Liu CL, Chen PS, He XH, et al. [Clinical value of PCR-flow fluorescence hybridization in prenatal genetic diagnosis of thalassemia.] [in Chinese]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021;29(1):221–227.
  • Zhou W, Wang G, Zhao X, et al. A multiplex qPCR gene dosage assay for rapid genotyping and large-scale population screening for deletional α-thalassemia. J Mol Diagn. 2013;15(5):642–651.
  • Babashah S, Jamali S, Mahdian R, et al. Accurate detection of unknown deletions in β-globin gene cluster in β thalassemia carriers using real-time PCR and MLPA. Sci J Iran Blood Transfus Organ. 2009;5(4):225–235.
  • Shinawi M, Cheung SW. The array CGH and its clinical applications. Drug Discov Today. 2008;13(17-18):760–770.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069.
  • Stephanou C, Kountouris P, Tamana S, et al. ITHANET: an information and database community portal for hemoglobinopathies. Hemoglobin. 2019;43(6):363–363.
  • Shang X, Peng Z, Ye Y, et al. Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. EBioMedicine. 2017;23:150–159.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
  • Richards S, Aziz N, Bale S, ACMG Laboratory Quality Assurance Committee, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
  • MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508(7497):469–476.
  • Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2−ΔΔCT method. Methods. 2001;25(4):402–408.
  • Bodin L, Beaune PH, Loriot MA. Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR. J Biomed Biotechnol. 2005;2005(3):248–253.
  • Medvedev P, Stanciu M, Brudno M. Computational methods for discovering structural variation with next-generation sequencing [J]. Nat Methods. 2009;6(11 Suppl):S13–S20.
  • Zhao M, Wang Q, Wang Q, et al. Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinf. 2013;14(S11):1–16.
  • Huang CH, Chang YY, Chen CH, et al. Molecular characterization of a β-globin gene deletion of 1357 bp in a Taiwanese β-thalassemia carrier. Hemoglobin. 2008;32(5):498–504.
  • Liu D, Zhang X, Yu L, et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood. 2014;124(5):803–811.
  • Waye JS, Eng B. Krüppel like factor 1: hematologic phenotypes associated with KLF1 gene mutations. Int Jnl Lab Hem. 2015;37(Suppl 1):78–84.
  • Jomoui W, Tepakhan W. Characterization and identification of Prachinburi β0-thalassemia: a novel-60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state. Int J Lab Hematol. 2021;43(4):O200–O203.
  • Hamid M, Akbari MT. A 13-bp deletion in the 3' untranslated region of the β-globin gene causes β-thalassemia major in compound heterozygosity with IVSII-1 mutation. Med Princ Pract. 2011;20(5):488–490.
  • Ho PJ, Rochette J, Fisher CA, et al. Moderate reduction of β-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families. Blood. 1996;87(3):1170–1178.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.