Ghasemzadeh, N. (2014) Alpha thalassemia prevalence and common mutations in couples referred to the experiments before marriage in Sistan and Baluchistan province. Masters thesis, University of Zabol.
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Abstract
Alpha thalassemia is the most common genetic abnormality in hemoglobin synthesis, which hypochromic microcytic anemia characterizes it, and presents the variable clinical phenotype from a symptomatic to lethal hemolytic anemia. Alpha thalassemia is an autosomal disorder and according to this, more than 70% of marriages in Sistan and Baluchistan are consanguineous. Furthermore, endemic malaria, which leads to natural selection of thalassemia gene, seems to be essential to research on alpha thalassemia prevalence and common mutations in this province that can provide a valuable foundation for rapid carrier thalassemia screening, genetic counseling and prenatal diagnosis. This study conducted on 3254 couples on Zahedan and Zabol that are referred to the central laboratories. Initially, people are screened based on hematology indices (MCV<83, MCH<29 and normal HBA2), and then the common deletion mutations (single and double gene deletion -α^3.7, -α^4.2, -α^20.5 and MED) with Gap-Multiple-PCR method and non-deletion mutation (a^Cd19 ،IVS-I〖 a〗^(-5nt)) have been determined with Amplification Mutation Refractory Systems Polymerase Chain Reaction (AMRS-PCR). Data have been analyzed by T-Test, Chi-square and ANOVA tests. The results have shown that the prevalence of alpha-thalassemia in Zabol and Zahedan is 14.6%. The -α^3.7 mutation with 48.7% is the most mutation in this region and followed by〖 a〗^(-5nt) (7.9 %), a^Cd19 (1.9%) and-α^4.2 (1.6%). Based on hematological indices, we found that 36% of subjects have MCV less than 83 and 74.8% of people have MCH less than 29 and 34.3% subjects have MCV<93 and MCH<29. So keeping these two indices together with HBA2 can be more useful in thalassemia screening.
| Item Type: | Thesis (Masters) |
|---|---|
| Uncontrolled Keywords: | Alpha thalassemia, mutation, Sistan and Baluchistan province, Prenatal Diagnosis |
| Subjects: | R Medicine > R Medicine (General) R Medicine > RB Pathology |
| Depositing User: | admin admin1 admin2 |
| Date Deposited: | 23 Feb 2016 09:14 |
| Last Modified: | 23 Feb 2016 09:14 |
| URI: | http://eprints.uoz.ac.ir/id/eprint/138 |
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