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

Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study

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Pages 42-46 | Received 12 Nov 2019, Accepted 15 Dec 2019, Published online: 06 Jan 2020

References

  • Gamarra S, Garcia-Effron G, Monteserin C, et al. beta-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.
  • Chern J, Lin K, Tsai W, et al. Hypogonadotropic hypogonadism and hematologic phenotype in patients with transfusion-dependent β-thalassemia. J Pediatr Hematol/Oncol. 2003;25(11):880–884.
  • 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.
  • 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(Database issue):D1063–D1069 (http://globin.cse.psu.edu).
  • Kyriacou K, Al Quobaili F, Pavlou E, et al. Molecular characterization of β-thalassemia in Syria. Hemoglobin. 2000;24(1):1–13.
  • Old J, Khan S, Verma I, et al. A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin. 2001;25(4):397–407.
  • Jarjour RA, Murad H, Moasses F, et al. Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. Hemoglobin. 2014;38(4):272–276.
  • Murad H, Moasses F, Dabboul A, et al. Geographical distribution of β-globin gene mutations in Syria. Hematology. 2018;23(9):697–704.
  • 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.
  • Othman H, Saadat M. Prevalence of consanguineous marriages in Syria. J Biosoc Sci. 2009;41(5):685–692.
  • Old JM, Olivieri NF, Thein SL. Management and prognosis. In: Weatherall DJ, Clegg JB, Editors. The thalassaemia syndromes. 4th ed. Oxford (Oxfordshire, UK): Blackwell Science. 2001:630–685.
  • Williams NS, Bulstrode CJK, O’Connell PR, Editors. Bailey and love’s short practice of surgery. 26th ed. Sebacous Horn. London (UK): Hodder Arnold. 2013:1087–1096.
  • Batubara JR, Akib A, Pramita D. Delayed puberty in thalassemia major patients. Paediatr Indones. 2016; 44(4):143–147.
  • Sankaran VG, Orkin SH. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013;(1):a011643.
  • Lazarte SS, Monaco ME, Haro AC, et al. Molecular characterization and phenotypical study of β-thalassemia in Tucuman, Argentina. Hemoglobin. 2014;38(6):394–401.
  • Hassan T, Zakaria M, Fathy M, et al. Association between genotype and disease complications in Egyptian patients with β thalassemia: a cross-sectional study. Sci Rep. 2018;8(1):17730.
  • Yaman A. Common complications in β-thalassemia patients. Paediatr Indones. 2013;23(3):193–199.
  • Skordis N, Michaelidou M, Savva SC, et al. The impact of genotype on endocrine complications in thalassaemia major. Eur J Haematol. 2006;77(2):150–156.
  • Al-Akhras A, Badr M, El-Safy U, et al. Impact of genotype on endocrinal complications in β-thalassemia patients. Biomed Rep. 2016;4(6):728–736.
  • Perera S, Allen A, Silva I, et al. Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka. Sci Rep. 2019;9(1):10116.
  • Jouini L, Sahli CA, Laaouini N, et al. Association between clinical expression and molecular heterogeneity in β-thalassemia Tunisian patients. Mol Biol Rep. 2013;40(11):6205–6212.

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