Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 6
51
Views
2
CrossRef citations to date
0
Altmetric
Original Articles

Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran

, , , &
Pages 423-426 | Received 23 May 2020, Accepted 26 Aug 2020, Published online: 14 Oct 2020

References

  • Najmabadi H, Ghamari A, Sahebjam F, et al. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran. Community Genet. 2006;9(2):93–97.
  • Hadavi V, Taromchi AH, Malekpour M, et al. Elucidating the spectrum of α-thalassemia mutations in Iran. Haematologica. 2007;92(7):992–993.
  • Valaei A, Karimipoor M, Kordafshari A, et al. Molecular basis of α-thalassemia in Iran. Iranian Biomed J. 2018;22(1):6.
  • Hafezi-Nejad N, Khosravi M, Bayat N, et al. Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience. Hemoglobin. 2014;38(3):153–157.
  • Harteveld CL, Losekoot M, Haak H, et al. A novel polyadenylation signal mutation in the α2-globin gene causing α thalassaemia. Br J Haematol. 1994;87(1):139–143.
  • Mettananda S, Gibbons RJ, Higgs DR. α-Globin as a molecular target in the treatment of β-thalassemia. Blood. 2015;125(24):3694–3701.
  • Borgio JF. Molecular nature of α-globin genes in the Saudi population. Saudi Med J. 2015;36(11):1271–1276.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
  • Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol. 1994;46(3):208–213.
  • Oron Karni V, Filon D, Shifrin Y, et al. Diversity of α globin mutations and clinical presentation of α thalassemia in Israel. Am J Hematol. 2000;65(3):196–203.
  • Borgio JF. Impact of annotation error in α-globin genes on molecular diagnosis. PLoS One. 2017;12(10):e0185270.
  • Flint J, Hill AV, Bowden DK, et al. High frequencies of α-thalassaemia are the result of natural selection by malaria. Nature. 1986;321(6072):744–750.
  • Modiano G, Morpurgo G, Terrenato L, et al. Protection against malaria morbidity: near-fixation of the α-thalassemia gene in a Nepalese population. Am J Hum Genet. 1991;48(2):390–397.
  • Piel FB, Weatherall DJ. The α-thalassemias. N Engl J Med. 2014;371(20):1908–1916.
  • Borgio JF, AbdulAzeez S, Al-Nafie AN, et al. A novel HBA2 gene conversion in cis or trans: “α12 allele” in a Saudi population. Blood Cells Mol Dis. 2014;53(4):199–203.
  • Akhtar MS, Qaw F, Borgio JF, et al. Spectrum of α-thalassemia mutations in transfusion-dependent α-thalassemia patients from the Eastern Province of Saudi Arabia. Hemoglobin. 2013;37(1):65–73.
  • Higgs DR, Bowden DK. Clinical and laboratory features of the thalassemia syndrome. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin Genetics, Pathophysiology, and Management. New York (NY, USA): Cambridge University Press, 2001, p. 431–469.
  • Liang ST, Wong VC, So WW, et al. Homozygous alpha thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol. 1985;92(7):680–684.
  • Higgs DR. α-Thalassaemia. Baillière’s Clin Haematol. 1993;6(1):117–150.
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
  • Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.

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.