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Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 2
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Original Articles

A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family

, , , , , , & show all
Pages 94-96 | Received 09 Nov 2020, Accepted 09 Apr 2021, Published online: 04 Jun 2021

References

  • Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155–167.
  • Lai K, Huang G, Su S, et al. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Sci Rep. 2017;7(1):920.
  • 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.
  • Chui DHK. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann NY Acad Sci. 2005;1054:25–32.
  • Viprakasit V, Tanphaichitr VS, Veerakul G, et al. Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease. Am J Hematol. 2004;75(3):157–163.
  • 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.
  • Wen W, Guo M, Peng H-B, et al. Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns. World J Pediatr. 2019;15(6):610–614.
  • Zhang Z, Li C, Li J, et al. Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China. J Clin Lab Anal. 2019;33(4):e22845.
  • 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.
  • Domingues-Hamdi E, Vasseur C, Fournier J-B, et al. Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule. PLoS One. 2014;9(11):e111395.
  • Liebhaber SA, Coleman MB, Adams JG, 3rd, et al. Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). J Clin Invest. 1987;80(1):154–159.
  • Martin G, Villegas A, González FA, et al. A novel mutation of the α2-globin causing α+-thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)]. Hemoglobin. 2010;29(2):113–117.
  • Tamaddoni A, Hadavi V, Nejad NH, et al. α-Thalassemia mutation analyses in Mazandaran province, North Iran . North Iran. Hemoglobin. 2009; 33(2):115–123.
  • Lei Y-L, Sui H, Liu Y-J, et al. Molecular and hematological characterization of a novel translation initiation codon mutation of the α2-globin gene (ATG>ATC or HBA2: c.3G>C). Hemoglobin. 2019;43(4-5):241–244.
  • 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.
  • Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5:13.

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