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بررسی ارتباط اندازه شاخصهای گلبولهای قرمز خون با نوع جهشهای ژن بتاگلوبین در ناقلین بتا تاالسمی استان خوزستان.
- Source :
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Scientific Journal of Iranian Blood Transfusion Organization . Spring2023, Vol. 20 Issue 1, p44-52. 9p. - Publication Year :
- 2023
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Abstract
- Background and Objectives Thalassemia is the most common monogenic disease worldwide inherited in autosomal recessive manner. Beta-thalassemia is caused by mutations in beta-globin gene. It is characterized by reduction in red blood cell indices including low MCV, low MCH, high RBC count, low HbA1 and high HbA2. Considering these symptoms, finding a relation between erythrocyte indices and kind of mutations can be used as a rapid method in mutation diagnosis and initial screening of carriers. Materials and Methods In this descriptive-analytical study after DNA extraction from 200 beta- thalassemia minors in Khuzestan province by salting out method, we amplified and sequenced beta-globin gene by Sanger sequencing. Finally, we analyzed statistically the beta-globin gene mutations and erythrocyte indices association by SPSS. Results Our results showed that IVSII-1(G > A) is the most common mutation with 22.5% frequency in this population of beta-thalassemia carriers. We found that MCV index variations have a meaningful association with beta-globin gene mutations and the highest mean of MCV (65.4 ± 3.7) was observed in IVSI-110(G > A) mutation. Conclusions The results comply with many other studies performed in this field and can be used for rapid detection of mutation in carrier parents and prenatal diagnosis. [ABSTRACT FROM AUTHOR]
Details
- Language :
- Persian
- ISSN :
- 10279520
- Volume :
- 20
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Scientific Journal of Iranian Blood Transfusion Organization
- Publication Type :
- Academic Journal
- Accession number :
- 163832556