β-globin gene (XmnI) polymorphism relation to β-thalassemia patients
  • Article Type: Research Article
  • Eurasian Journal of Biosciences, 2020 - Volume 14 Issue 2, pp. 3905-3909
  • Published Online: 17 Oct 2020
  • Open Access Full Text (PDF)

Abstract

Our study aims to the investigation of polymorphism of the β-globin gene (XmnI) in children patients with β-thalassemia in Diwaniyah province/ Iraq. the study is done by taking of the blood sample from (30) children patients with β-thalassemia at (4-10) years old, and (20) individual healthy used as control at (5-10) years old children from Al-Diwaniyah Hospital, at Diwaniyah province, Iraq. The blood samples were subjected placed in EDTA tubes and stored in the freezer until DNA extraction and make PCR-RFLP Technique by using specific primers that provided for this purpose, then the samples submitted to immigration and separation by (2) % agarose gel electrophoresis then visualized under ultra-violate Transilluminator. Our findings are showed a percentage of the XmnI-/ - (homozygous wild type) of the beta-globin gene 25/30 (83.3) %, while the percentage of the XmnI +/- (heterozygous) of the beta-globin gene was 5/30 (16.6) % in children patients with beta. Furthermore, our study showed all the children healthy group have XmnI -/ - homozygous wild type of the beta-globin gene. Finally, the most children patients with beta-thalassemia have two same polymorphism of the beta-globin gene (homozygous) at (83.3) %, while rest children patients with beta-thalassemia have two different polymorphism of the beta-globin gene (heterozygous) at (16) % furthermore the healthy group (control) have homozygous alleles of the beta-globin in normal children.

References

  • Aessopos A, Farmakis D, Deftereos S, Tsironi M, Tassiopoulos S, Moyssakis I, Karagiorga M.(2005) Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia. Chest. 127:1523–1530. doi: 10.1378/chest.127.5.1523.
  • Agouti I, Badens C, Abouyoub A, Khattab M, Sayah F, Barakat A (2007) Genotypic correlation between six common Moroccan mutations of b-thalassemia and XMN-I polymorphism. Hemoglobin;31(2):141–9.
  • Bahadir A, Atalay EO.(2012) Frequency of Gc-globin promoter 158 (C >T) XmnI polymorphism in Denizli, Turkey. Int J Phys Sci;7 (12):1927–31.
  • Boudrahem-Addour N, Zidani N, Carion N, Labie D, Belhani M, Beldjord C. (2009); Molecular heterogeneity of b-thalassemia in Algeria: how to face up to a major health problem. Hemoglobin;33 (1):24–36.
  • Cao A, Galanello R. (2010) Beta-thalassemia. Genet. Med. Feb; 12(2):61-76.
  • Dedoussis GV, Mandilara GD, Boussiv M, Loutradis A. (2000) HbF production in b-thalassaemia heterozygotes for the IVSII-1 G-A b0-globin mutation. Implication of the haplotype and the Gg 158 C-T mutation on the HbF level. Am J Hematol;64:151–5.
  • Dehghanifard A, Shahjahani M, Galehdari H, Rahim F, Hamid F, Jaseb K, Asnafi A A, Jalalifar M A, Saki N.(2013) Prenatal Diagnosis of Different Polymorphisms of β-globin Gene in Ahvaz. International journal of hematology-oncology and stem cell research, 7(2), 17–22.
  • Farmaki T, Tzoumari I, Pappa C, Chouliaras G, Berdoukas V.(2010) Normalisation of total body iron load with very intensive combined chelation reverses cardiac and endocrine complications of thalassaemia major. Br J Haematol, 148: 466–475.
  • Farshdousti Hagh M, Dehghani Fard A, Saki N, Shahjahani M, Kaviani S.(2011) Molecular Mechanisms of Hemoglobin F Induction. IJHOSCR ; 5(4):5–9.
  • Fibach E, Rachmilewitz E A.(2017) Pathophysiology and treatment of patients with beta-thalassemia - an update., F1000Research, 6, 2156. https://doi.org/10.12688/f1000research.12688.1
  • Galanello R, Origa R.(2010). Beta-thalassemia. Orphanet journal of rare diseases, 5, 11. https://doi.org/10.1186/1750-1172-5-11
  • Garner C, Silver N, Best S, Menzel S, Martin C, Spector TD, (2004) Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood 2004; 104(7):2184–6.
  • Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP. (2007) HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 28:206. doi: 10.1002/humu.9479.
  • Grosso M, Amendolara M, Rescigno G, Danise P, Todisco N, Izzo P, (2008) Delayed decline of c globin expression in infant age associated with the presence of Gc 158 (C >T) polymorphism. Int J Lab Hematol, 30(3):191–5.
  • Kaddah N, Rizk S, Kaddah AM, Salama K, Lotfy H.(2009) Study of possible genetic factors determining the clinical picture of thalassemia intermedia. J Med Sci ;9:151–5.
  • Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A. (2014) Guidelines for diagnosis and management of Beta-thalassemia intermedia. Pediatr Hematol Oncol. ;31 (7):583-96.
  • Lo YM.(2005) Recent advances in fetal nucleic acids in maternal plasma. J HistochemCytochem;53:293–296.
  • Matta BN, Musallam KM, Maakaron JE, Koussa S, Taher AT. (2014) A killer revealed: a 10-year experience with beta-thalassemia intermedia. Hematology. 19 (4):196-8.
  • Mavrou A, Kouvidi E, Antsaklis A, Souka A, KitsiouTzeli S, Kolialexi A. (2007) Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications. PrenatDiagn. 27:150–153.
  • Neishabury M, Azarkeivan A, Najmabadi H.(2010) Frequency of positive XmnlGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show a statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation. Blood Cells Mol Dis ;44(2):95–9.
  • Nienhuis A W, Nathan D G.(2012) Pathophysiology and Clinical Manifestations of the β-Thalassemias. Cold Spring Harbor perspectives in medicine, 2(12), a011726.
  • Tantawy AAG, Andrawes NG, Ismaeil A, Kamel SA, Emam W.(2012) Prevalence of XmnlGc polymorphism in Egyptian patients with beta-thalassemia major. Ann Saudi Med ;32(5):487–91.
  • Winichagoon P, Fucharoen S, Chen P, Wasi P. (2000) Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Pediatr Hematol Oncol; 22 (6):573–80.
  • Zandiankh K, Kiekhaie B, Pedram M.(2006) Prenatal diagnosis and determination of a, ß thalassemia, S, D, and C hemoglobinopathies globin gene mutations among Ahvazi volunteers. Scientific Medical Journal Ahwaz Jundishapur of Medical Sciences;5:508.

License

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.