Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 43, 2019 - Issue 4-5
105
Views
1
CrossRef citations to date
0
Altmetric
Short Communications

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report

, , &
Pages 283-285 | Received 01 Sep 2019, Accepted 07 Sep 2019, Published online: 12 Nov 2019

References

  • Gamarra S, Garcia-Effron G, Monteserin C, et al. β-Thalassaemia major in a Spanish patient due to a compound heterozygosity for CD39 C>T/−28 A>C. Adv Hematol. 2009;2009:476342.
  • Agouti I, Badens C, Abouyoub A, et al. Genotypic correlation between six common β-thalassemia mutations and the XmnI polymorphism in the Moroccan population. Hemoglobin. 2007;31(2):141–149.
  • Panigrahi I, Agarwal S. Genetic determinants of phenotype in β-thalassemia. Hematology. 2008;13(4):247–252.
  • Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61–76.
  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harbor Perspect Med. 2013;3(5):a011700.
  • 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/).
  • Murad H, Moasses F, Dabboul A, et al. Geographical distribution of β-globin gene mutations in Syria. Hematology. 2018;23(9):697–704.
  • Sirdah MM, Sievertsen J, Al-Yazji MS, et al. The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. Blood Cells Mol Dis. 2013;50(4):247–251.
  • Rujito L, Basalamah M, Siswandari W, et al. Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: a study on β-thalassemia and Hemoglobin E/β-thalassemia patients in Indonesia. Hematol/Oncol Stem Cell Ther. 2016;9(2):55–63.
  • Murad H, Moassas F, Jarjour R, et al. Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population. Hemoglobin. 2014;38(6):390–393.
  • Beshara A, Editor. The Origins of Syrian Nationhood: Histories, Pioneers and Identity. Abingdon (Oxon, UK); New York (NY, USA): Routledge, Taylor & Francis Group, 2011.
  • Tadmouri GO, Gulen RI. Deniz: the electronic database for β-thalassemia mutations in the Arab world. Saudi Med J. 2003;24(11):1192–1198.
  • Zahed L. The spectrumof β-thalassemia mutations in the Arab populations. J Biomed Biotechnol. 2001;1(3):129–132.
  • Kyriacou K, Al Quobaili F, Pavlou E, et al. Molecular characterization of β-thalassemia in Syria. Hemoglobin. 2000;24(1):1–13.
  • Gonzalez-Redondo JM, Stoming TA, Lanclos KD, et al. Clinical and genetic heterogeneity in Black patients with homozygous β-thalassemia from the Southeastern United States. Blood. 1988;72(3):1007–1014.
  • Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM. β-Globin mutations in Egyptian patients with β-thalassemia. Lab Med. 2015;46(1):8–13.
  • Elhalfawy KH, Daif A, Shaalan O. Detection of common β thalassemia mutations among Egyptian patients. Egypt J Genet Cytol. 2017;46(1):111–119.

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.