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Association study of RBC indices with Beta globin gene mutations in beta thalassemia carriers in Khuzestan province
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A. Farjadi   , S.Z. Masoomizadeh  , B. Andashti * |
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Abstract: (800 Views) |
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.
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| Keywords: beta-Thalassemia, Erythrocyte Indices, Red Blood Cells |
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Full-Text [PDF 608 kb]
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Type of Study: Research |
Subject:
Genetis
Published: 2023/04/4
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