Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 4
96
Views
2
CrossRef citations to date
0
Altmetric
Short Communication

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan

ORCID Icon, , , , , & show all
Pages 276-277 | Received 10 Aug 2018, Accepted 18 Sep 2018, Published online: 13 Nov 2018

References

  • Asadov C, Alimirsoeva Z, Mammadova T, et al. Thalassaemia Prevention Programme in Azerbaijan: Preliminary Report. Abstract Book of the International Conference on Thalassaemia and other Haemoglobinopathies held in Thesssaloniki, Greece on October 17-19 2017. 2017:140. Available at: http://thalassaemia.org.cy/wp-content/uploads/2017/11/TIF2017_Abstract-Book.pdf.
  • Cürük M, Yüregir G, Asadov C, et al. Molecular characterization of β-thalassemia in Azerbaijan. Hum Genet. 1992;90(4):417–419.
  • Tagiev AF, Surin VL, Gol’tsov AA, et al. The spectrum of β-thalassemia mutations in Azerbaijan. Hum Mutat. 1993;2(2):152–1544.
  • Kuliev AM, Rasulov IM, Dadasheva T, et al. Thalassaemia in Azerbaijan. J Med Genet. 1994;31(3):209–212.
  • Asadov C, Abdulalimov E, Mammadova T, et al. Genotype-phenotype correlations of β-thalassemia mutations in an Azerbaijani population. Turkish J Haematol. 2017;34(3):258–263.
  • Aliyeva G, Abdulalimov E, Asadov C, et al. First report of β-thalassemia intermedia in a patient compound heterozygous for –92 (C>T) and codons 36/37 (–T) mutations. Hemoglobin. 2018;12:1–2.
  • Berdeli A, Toparlak P, Janbakhishov T, et al. Identification of rare β-globin gene frameshift mutation (14LeuFsX21) in HBB gene by direct sequencing in Azerbaijani patients. Turkish J Reprod Med Surg. 2017;1(3):234
  • Waye JS, Eng B, Olivieri NF, et al. Identification of a novel β0-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis. Prenat Diagn. 1994;14(10):929–932.
  • Chan V, Chan TK, Kan YW, et al. A novel β-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA. Blood. 1988;72(4):1420–1423.
  • Mo Q-H, Li X-R, Li C-F, et al. A novel frameshift mutation (+G) at codons 15/16 in a β0 thalassaemia gene results in a significant reduction of β globin mRNA values. J Clin Pathol. 2005;58(9):923–926.
  • Hall GW, Thein S. Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. Blood 1994;83(8):2031–2037.
  • Couttet P, Grange T. Premature termination codons enhance mRNA decapping in human cells. Nucleic Acids Res. 2004;32(2):488–494.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(D1):D1063–D1069. (Database issue: http://globin.cse.psu.edu).
  • Kountouris P, Lederer CW, Fanis P, et al. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014;9(7):e103020.

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.