Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 48, 2024 - Issue 2
48
Views
0
CrossRef citations to date
0
Altmetric
Review Article

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup)

, , , , , & show all
Pages 113-115 | Received 08 Jan 2024, Accepted 02 Mar 2024, Published online: 02 Apr 2024

References

  • Steinberg MH, Nagel RL. Hemoglobins of the embryo, fetus, and adult. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, editors. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. 2nd ed. Cambridge University Press, New York, NY; 2009.
  • Wilson K, Hawken S, Murphy MSQ, et al. Postnatal prediction of gestational age using newborn fetal hemoglobin levels. EBioMedicine. 2017;15:203–209. doi: 10.1016/j.ebiom.2016.11.032.
  • Streetly A, Latinovic R, Henthorn J, et al. Newborn bloodspot results: predictive value of screen positive test for thalassemia major. J Med Screen. 2013;20(4):183–187. doi: 10.1177/0969141313514217.
  • Jones RW, Old JM, Trent RJ, et al. Restriction mapping of a new deletion responsible for Gγ(δβ)0 thalassemia. Nucleic Acids Res. 1981;9(24):6813–6825. doi: 10.1093/nar/9.24.6813.
  • Mager DL, Henthorn PS, Smithies O. A Chinese Gγ+(Aγδβ)0 thalassemia deletion: comparison to other deletions in the human β-globin gene cluster and sequence analysis of the breakpoints. Nucleic Acids Res. 1985;13(18):6559–6575. doi: 10.1093/nar/13.18.6559.
  • Waye JS, Eng B. Diagnostic testing for α-globin gene disorders in a heterogeneous North American population. Int J Lab Hematol. 2013;35(3):306–313. doi: 10.1111/ijlh.12066.
  • Jiang F, Huang LY, Chen GL, et al. A novel frameshift mutation at codons 138/139 (HBB:c.417_418insT) of the β-globin gene leads to β-thalassemia. Hemoglobin. 2017;41(1):59–60. doi: 10.1080/03630269.2017.1295986.
  • Richards S, Aziz N, Bale S, 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. doi: 10.1038/gim.2015.30.
  • Kountouris P, Stephanou C, Lederer CW, et al. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022;43(8):1089–1096. doi: 10.1002/humu.24280.
  • Kountouris P, Lederer CW, Fanis P, et al. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014;9(7):e103020. doi: 10.1371/journal.pone.0103020.
  • Cai WJ, Li J, Xie XM, et al. Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F. Int J Lab Hematol. 2015;37(6):752–757. doi: 10.1111/ijlh.12401.
  • Chen W, Zhang X, Shang X, et al. The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet. 2010;11(1):31. doi: 10.1186/1471-2350-11-31.
  • Jiang F, Zuo L, Li D, et al. Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China. BMC Med Genet. 2020;21(1):43. doi: 10.1186/s12881-020-0981-x.
  • He S, Wei Y, Lin L, et al. The prevalence and molecular characterization of (δβ)0-thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population. J Clin Lab Anal. 2018;32(3):e22304.
  • Chen M, Zhang M, Chen L, et al. Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: a 14-year single-center experience. J Clin Lab Anal. 2022;36(2):e24181.
  • Wu Y, Yao Q, Zhong M, et al. Genetic research and clinical analysis of deletional Gγ+(Aγδβ)0-thalassemia and Southeast Asian HPFH in South China. Ann Hematol. 2020;99(12):2747–2753. doi: 10.1007/s00277-020-04252-7.
  • Tan Jin Ai MA, Yap SF, Tan KL, et al. Mild beta-thalassemia intermedia caused by compound heterozygosity for Gγ(Aγδβ)0/β-thalassemia and molecular characterization of the defect in four Chinese families. Acta Haematol. 2003;109(4):169–175. doi: 10.1159/000070965.
  • Li Z, Liu L, Zhao Y, et al. Two thalassemia intermedia patients with δβ/β-thalassemia and a deletional type of α-thalassemia. Haematologica. 2001;86(1):108.

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.