Characterization of Common β-Thalassemia Major Mutations in Southwest Iran with Respect to Biochemical Parameters, Oxidative Status and Complications
Publish place: Journal of Advanced Biomedical Sciences، Vol: 11، Issue: 1
Publish Year: 1399
نوع سند: مقاله ژورنالی
زبان: English
View: 134
This Paper With 10 Page And PDF Format Ready To Download
- Certificate
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
JR_JABS-11-1_007
تاریخ نمایه سازی: 31 تیر 1402
Abstract:
Background & Objective: Beta-thalassemia are among the most common autosomal recessive genetic disorders in Iran, especially in Khuzestan province. Beta-thalassemia exhibits significant phenotype heterogeneity and there are currently more than ۲۰۰ known mutations in this region. Oxidative stress exacerbates multiple disorders, including thalassemia, an inherited hemolytic anemia caused by globin gene mutations. We aim to characterize significant mutations of widespread β-thalassemia in south-western Iran with respect to biochemical parameters, oxidative status and complications of diseases.
Material & method: Forty-five patients, aged between ۱۵-۳۵ years with β-thalassemia major were selected. The patients were receiving regular blood transfusion and chelation therapy and have been previously characterized to bear beta globin gene mutations. The subjects’ medical histories were documented by review of previous medical records. We also determined biochemical parameters including glycemic and iron indices, hepatic and renal function tests, oxidative stress markers and levels of advanced glycation end product species (Carboxy methyl lysine and Pentosidin).
Results: The most common mutation was found to be CD۳۶/۳۷(۲۸.۹%) followed by IVSII-۱, and IVSI-۱۱۰. Values of iron indices were significantly different in various mutation groups. Carboxy methyl lysine and pentosidine were found to be higher in the β-thalassemia patients with IVSII-۱ and IVSI-۱۱۰, respectively. Also sLOX-۱ was found to be significantly higher in IVSI-۱۱۰ group. Complications of the disease were differently presented in mutation groups and hemochromatosis, hepatomegaly, and diabetes were among the most common problems.
Conclusion: About ۷۲ % of β-thalassemia major cases in southwest Iran result form ۳ common mutations with different clinical and laboratory presentations. Molecular genetic testing can be helpful to evaluate the patients’ situation.
Keywords:
Authors
حمید یاقوتی
Hyperlipidemia Research Center, Faculty of Paramedical, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
مریم سادات میرلوحی
Department of Biochemistry, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
سعید شیرعلی
Hyperlipidemia Research Center, Faculty of Paramedical, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
علی امین اصنافی
Thalassemia and Hemoglobinopathy Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
مراجع و منابع این Paper:
لیست زیر مراجع و منابع استفاده شده در این Paper را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود Paper لینک شده اند :