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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
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Original Articles

A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family

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Pages 55-57 | Received 17 Nov 2019, Accepted 26 Dec 2019, Published online: 15 Jan 2020

References

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  • Pornprasert S, Tookjai M, Punyamung M, et al. Proficiency testing program for Hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials. Clin Chem Lab Med. 2018;56(4):602–608.
  • Xu LH, Fang JP. The current status of β-thalassemia major in Mainland China. Hemoglobin. 2013;37(4):307–314.
  • Zhang J, Yang Y, Li P, et al. Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China. Mol Genet Genomic Med. 2019;7(6):e706.
  • El-Latif MA, Filon D, Rund D, et al. The β+-IVS-I-6 (T>C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. Hemoglobin. 2002;26(1):33–40.
  • Bonne B. Genes and phenotypes in the Samaritan isolate. Am J Phys Anthropol. 1966;24(1):1–19.
  • Chen B, Huang P, Yi S, et al. First detection of a splice site β-thalassemia mutation, IVS-I-6 (T>C) (HBB: c.92+6T>C) in a Chinese family. Hemoglobin. 2015;39(3):207–208.
  • Waye JS, Eng B, Patterson M, et al. Severity of β-thalassemia due to genotypes involving the IVS-I-6 (T→C) mutation. Am J Hematol. 1995;50(1):15–19.

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