Mutation Frequency of β-Globin Gene among β-thalassemia Major Patients Referred to the Shafa Hospital of Ahvaz between 2011-2015

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JASEB KAVEH; GALEHDARI HAMID; Ahmadian Elmi Masoumeh; Ahmadian Elmi Maryam

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Journal: Jundishapur Scientific Medical Journal Year:2018 | Volume:17 | Issue:4 Page(s): 387-400

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Title

Mutation Frequency of β-Globin Gene among β-thalassemia Major Patients Referred to the Shafa Hospital of Ahvaz between 2011-2015

Author(s)

JASEB KAVEH | GALEHDARI HAMID | Ahmadian Elmi Masoumeh | Ahmadian Elmi Maryam | Issue Writer Certificate

Keywords

β-globinQ3

β-thalassemia-majorQ3

Gene mutationQ2

DNA sequencingQ3

Abstract

Background and Objectives: β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain. Because of a wide variation in the ethnic population in Iran, it is expected that a concurrent incidence of a range of mutations exist. The objective if this study was to estimate this variation among patients referred to our center in Khuzestan province, Iran. Subjects and Methods: We studied the frequency of β-thalassemic mutations in all patients with β-thalassemia major referring to Ahvaz's Shafa Hospital from 2011 to 2015. Results: The mutations in 1608 alleles were detected by studying the genetic records of 804 patients. The IVSII-1 mutation with 17. 72% frequency was the most common mutation. CD36/37 with 16. 29%, IVSI-110 mutations with 11. 1%, CD6 mutation with 11. 19%, and CD8 mutation with 9. 95% were the other most commonly occurring mutations, respectively. Conclusion: The findings of this study indicate that β-thalassemia mutations in the population of Khuzestan province have a wide-spread and distribution. Success in pre-natal diagnosis of disease require sufficient knowledge on the common mutations of this disease.

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APA: Copy

JASEB, KAVEH, GALEHDARI, HAMID, Ahmadian Elmi, Masoumeh, & Ahmadian Elmi, Maryam. (2018). Mutation Frequency of β-Globin Gene among β-thalassemia Major Patients Referred to the Shafa Hospital of Ahvaz between 2011-2015. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, 17(4 ), 387-400. SID. https://sid.ir/paper/384714/en

Vancouver: Copy

JASEB KAVEH, GALEHDARI HAMID, Ahmadian Elmi Masoumeh, Ahmadian Elmi Maryam. Mutation Frequency of β-Globin Gene among β-thalassemia Major Patients Referred to the Shafa Hospital of Ahvaz between 2011-2015. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL[Internet]. 2018;17(4 ):387-400. Available from: https://sid.ir/paper/384714/en

IEEE: Copy

KAVEH JASEB, HAMID GALEHDARI, Masoumeh Ahmadian Elmi, and Maryam Ahmadian Elmi, “Mutation Frequency of β-Globin Gene among β-thalassemia Major Patients Referred to the Shafa Hospital of Ahvaz between 2011-2015,” JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, vol. 17, no. 4 , pp. 387–400, 2018, [Online]. Available: https://sid.ir/paper/384714/en

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