Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 1
81
Views
0
CrossRef citations to date
0
Altmetric
Short Communications

Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals

, , , , , , & show all
Pages 49-51 | Received 04 Nov 2020, Accepted 10 Jan 2021, Published online: 01 Apr 2021

References

  • Akbari MT, Hamid M. Identification of α-globin chain variants: a report from Iran. Arch Iran Med. 2012;15(9):564–567.
  • Zhou JY, Yan JM, Li J, et al. First case of a compound heterozygosity for two nondeletional α-thalassemia mutations, Hb Constant Spring and Hb Quong Sze. Hemoglobin. 2016;40(3):210–212.
  • Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5:13.
  • Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517–522.
  • Traeger-Synodinos J, Harteveld CL. Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives. Expert Rev Mol Diagn. 2017;17(3):281–291.
  • Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
  • Xu L-H, Fang J-P. The current status of β-thalassemia major in Mainland China. Hemoglobin. 2013;37(4):307–314.
  • 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 (https://globin.bx.psu.edu/hbvar/menu.html).
  • He J, Song W, Yang J, et al. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. Genet Med. 2017;19(9):1022–1031.
  • Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. 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.

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.