Molecular study of patients with thalassemia major in Ardabil Province

Document Type : Original Research

Authors
H. Izadikia 1
K. radjabalizadeh 2
1 Ardabil University of Medical Sciences - Imam Reza Hospital, Ardabil, Iran
2 Department of Biology , Ardabil Branch, Islamic Azad University, Ardabil, Iran
Abstract
Thalassemia is a common disease caused by mutations in the beta globins gene. Today, this disease is high frequency due to some factors including lack of control, the increase of population growth, and lack of implementation of appropriate methods of family planning. In present study, the molecular β-thalassemia has been investigated in patients with thalassemia major in Ardabil, Iran. Blood samples of patients were collected over the province and in the process of collecting; sampling of venous blood was performed under blood expert guidance and with the consent of 50 patients with β-thalassemia major. The samples were stored at -70 ºC in the freezer and DNA after extraction was amplified by amplification refractory mutation system - polymerase chain reaction (ARMS-PCR) method. The results showed that the frequency of mutation was 16%, 14% and 4% for IVSI-110, IVSII-1 and IVSI-5 mutations, respectively. It can be concluded that the incidence of β-thalassemia major in Ardabil IVSI-110 has the highest ratio of the disease, IVSII-1 is in the second place and IVSI-5 has a bit effect on the creation of thalassemia major patients. It is recommended to create a database of mutations in β-thalassemia patients to find appropriate therapeutic solutions.

Keywords

1- Lee G R, Forester J, Lukens J, Paraskovas F, Greer J P, Rodgers G M. The Wintrobe's Clinic Hematology. Baltimore: Lippincott, Williams and Wilkins 1999; Vol.1.10th ed.
2- Al-Thwani A N, Hussain A S. Molecular Genetic Study on Beta-thalassemia Major in Some Iraqi Patients. Iraqi J Biotech 2010; 9(1): 115-123.
3- Arab M, Abbaszadeh A. The impact of knowledge curriculum about thalassemia on awareness of student. J Qazvin Univ Med Sci 2003; 22: 43-47.
4- Karimi S, Javadi M, Jafarzadeh F. Economic burden and healthcare cost arising from chronic diseases in Iran. Special J Heal Eco 2011; 8 (7): 984-996.
5- Allen S J, Donnell A, Alexander N D E. Α-thalassemia protects children against disease caused by other infections as well as malaria. Proc Narl Acad Sci USA 1997; 94: 14736-14741.
6- Moafi A, Rahgozar S, Pourfathollah A,Hariri M. Scattered distribution of blood group antigens in patients with intermediate thalassemia and blood donors in Isfahan, Iran. J Blood 2005; 2(3): 23-29.
7- Mehrpouri M, Keshavarz S, Abdolvahabi R, Khalafi Z, Asiaban H, Rezaei M, et al. The frequency of mutations in alpha-thalassemia in volunteers for marriage referred to health centers of Shahid Bolandian in Arak, Iran. Sci J Qazvin Univ Res Comm 2011; 6(23): 19-24.
8- Mahdavi M R, Hojjati M T, Roshan T T. A review on thalassemia and its complications . J Mazandaran Univ Med Sci 2013; 23(149): 103-139.
9- Valizadeh F, Dailami A. The investigation of distribution of alpha-thalassemia mutations in the couple suspected of the disease from 2006 to 2012 in Babolsar, Iran. J Mazandaran Univ Med Sci 2014; 23(109): 17-25.
10- Sarookhani M R, Ahmadi M H. Rare and unexpected beta thalassemic mutations in Qazvin province of Iran. Afr J Biotechnol 2010; 9(1): 095-101.
11- Roudkanar MH, Najmabadi H, Derakhshandeh P, Farhud DD .Detection of rare and unknown mutations in beta-thalassemia traits in Iran. Iran J Public Health 2003; 32(1): 11-14.
12- Kwok S, Kellogg D E, McKinney N, Spasic D, Goda L, Levenson C, et al. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type I model studies. Nucl Acids Res 1990; 18, 999-1005.
13- Old JM, Higgs DR. Gene analysis. In: Weatherall DJ (ed) Methods in hemotology, vol 6. The thalassemias, Livingstone 1983; 74–101.
14- Old JM. Hemoglobinopathies. In: Elles R (ed) Methods in molecular medicine: molecular diagnosis of genetic disease.Humana press Inc, Totowa 1996;169–183.
15- Najmabadi H, Teomourian S, Khatibi T, Neishabury M, Pourfarzad F, Talil-Nejad S, et al. Amplification refractory mutation system (ARMS) and reverse hybridization in the detection of β-thalassemia mutations. Arch Iran Med 2001; 4(4): 165-170.
16- Mahboudi F, Zeinali S, Merat A, Delmaghani S, Mostafavipor K, Moghaddam Z, et al. The molecular bases of β-thalassemia mutations in Fars province, Iran. Iran J Med. Sci 1996; 21(3&4): 104-109.
17- Galledari H, Babaahmdi Y, Andshti B, Pedram M, Zandian Kh. Prevalence of beta-globin gene mutations in patients with beta thalassemia major referred to Shafa hospital in Ahwaz. Sci Med J Ahwaz Jundishapur Univ Med Sci 2008; 7(4): 495-502.
18- Hashemi Soteh M, Akhavan Niaki H, Kowsarian M, Aliasgharian A. The frequency of beta-globin gene mutations in patients with beta thalassemia in east of Mazandaran. J Mazandaran Univ Med Sci 2008; 18(67): 17-25.
19- Karimi M, Alavian Ghavanini A, Kadivar MR. Regional mapping of the gene frequency of beta thalassemia in Fars province, Iran during 1997-1998. Iran J Med Sci 2000; 25:134-7.
20- Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, et al. The β-thalassemia mutation spectrum in the Iranian population. Hemoglobin. 2001;25(3):285–96.
21- Ali Bazi, Ebrahim Miri-Moghaddam. Spectrum of β-thalassemia Mutations in Iran, an Update. Iran J Ped Hematol Oncol. 2016; 6(3): 190-202.
22- Derakhshandeh-Peykar P, Akhavan- Niaki H, Tamaddoni A, Ghawidel-Parsa S, Holakouie Naieni K, Rahmani M, et al. Distribution of â-thalassemia mutations in the northern provinces of Iran. Hemoglobin. 2007; 31(3): 351-6.
23- Sayahi M, Ghanbari Mardasi F, Salehi Kambo M. Thalassemia Spectrum and Prenatal Diagnosis among Voluntary Couples in Shushtar City, during a Five Year Period. Gene Cell Tissue. 2017; 4(4): e64501.
24- Saleh-Gohari N, Bazrafshani M. Distribution of β-globin gene mutations in thalassemia minor population of Kerman Province, Iran. Iran J Public Health. 2010; 39(2): 69.
25- Yavarian M, Harteveld CL, Batelaan D, Bernini LF, Giordano PC. Molecular spectrum of β-thalassemia in the Iranian province of Hormozgan. Hemoglobin. 2001; 25(1): 35-43.
Pathobiology Reserach
Volume 25, Issue 4
October 2022
Pages 37-42