Search

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]

Background & Objectives: Beta-thalassemia is one of the complex diseases that causes many social and economic problems for the patient and his family. This study aimed to investigate factors influencing the birth of thalassemia (intermedia or major) in family members with thalassemia major in Sistan and Baluchistan province. Materials & Methods: This descriptive-analytical study was conducted by census sampling on 48 families of thalassemia major patients with at least two children with thalassemia (intermedia or major) in their members. Data were collected through direct interviews and a review of patients' documents. The results were analyzed by SPSS (version 22) and Mann-Whitney U, Independent t-test, Wilcoxon, and Chi-square tests. Results: In this study, statistical evaluations showed that the birth of thalassemia in family members with thalassemia major whose mothers are housewives was 100% and in families that had no premarital counseling was 91.7%. There was a significant relationship between variables related to mothers' awareness of thalassemia, including their place of residence and Sistani and Baluchestani ethnics, and the birth of thalassemia in family members with thalassemia major (in both cases, P-value = 0.05); However, there was no significant relationship between other variables related to mothers' awareness such as age groups and maternal education with the birth of thalassemia in family members with thalassemia major (P-Value = 0.98 and P-Value = 0.22, respectively). Conclusion: Informing and educating before marriage for high-risk families with thalassemia children, as well as financial support for low-income families can inform parents, prevent the birth of thalassemia, and improve the quality of life of these patients. [ABSTRACT FROM AUTHOR]