Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 3
171
Views
1
CrossRef citations to date
0
Altmetric
Short Communication

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family

, , , , , & show all
Pages 207-208 | Received 09 Jan 2015, Accepted 20 Feb 2015, Published online: 09 Apr 2015

References

  • 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 (http://globin.cse.psu.edu)
  • Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford, UK: Blackwell Science, 2001
  • Li DZ, Liao C, Li J, Li R. A. novel β-globin gene deletion (codons 89–93) in a Chinese family. Ann Hematol. 2010;89(3):323–325
  • Liao C, Li DZ, Li J. First detection of the codons 41–43 (−CTTTG, +A) β-thalassemia mutation in a Chinese patient. Ann Hematol. 2008;87(9):775–776
  • He S, Li D, Lai Y, et al. Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China. Arch Gynecol Obstet. 2004;289(1):61–65
  • 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
  • Falchi A, Giovannoni L, Vacca L, et al. β-Globin gene cluster haplotypes associated with β-thalassemia on Corsica Island. Am J Hematol. 2005;78(1):27–32
  • 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
  • Efremov GD. Thalassemias and other hemoglobinopathies in the Republic of Macedonia. Hemoglobin. 2007;31(1):1–15
  • Hussein G, Fawzy M, El Serafi T, et al. Rapid detection of β-thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: A step in disease control. Hemoglobin. 2007;31(1):49–62
  • Altay Ç. The frequency and distribution pattern of β-thalassemia mutations in Turkey. Turkish J Hematol. 2002;19(2):309–315
  • Bahadır A, Öztürk O, Atalay A, Atalay EÖ. β Globin gene cluster haplotypes of the β thalassemia mutations observed in the Denizli province of Turkey. Turk J Hematol. 2009;26(3):129–137

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.