RESUMO
Background and aim: Thalassemia is the most common single gene disorder which is not completely cured. It is needed to find a reliable and cost-effective prevention method for screening the disease. For the next step, it is needed to give proper education, genetic consulting and prenatal diagnosis for the patients and finally selective termination of affected fetuses. The aim of this study was to evaluate effectiveness of the Naked Eye Single Tube Red Cell Osmotic Fragility Test [NESTROFT] as a screening test for beta-thalassemia trait
Methods: In this descriptive -analytical study, NESTROFT was applied to a total of 158 subjects who were divided into three groups. Group I was comprised of 51 individuals belonging to parents whom at least one of the children was suffering from beta-thalassemia major, group II was consisted of 51 normal individuals and finally group III was comprised of 56 individuals with iron deficiency
Results: The findings of this study showed that sensitivity of the test was as high as 100 percent and specificity was 86.9 percent. The predictive value of the positive test was 78.5 percent and the negative test was as high as 100 percent. False positive results were obtained in 14 cases with iron deficiency
Conclusion: NESTROFT emerged as a highly sensitive, inexpensive and easy to perform test for exclusion of beta-thalassemia trait. It is therefore a suitable test for large-scale use in a developing country such as Iran, which has got limited financial and technical resources
RESUMO
Cholesteryl ester transfer protein [CETP] plays pivotal role in HDL metabolism and in reverse cholesterol transport [RCT] pathway. CETP gene variants such as-629C/A that affect HDL cholesterol directly, modulates CETP gene transcriptional activity. This study was aimed to determine influence of-629C/A polymorphism of CETP in statin effects with regard to plasma HDL cholesterol levels. In this descriptive-analytical study, 196 adult patients with LDL-C more than 120mg/dL were divided into two groups base on lovastatin and atorvastatin using. Lipid profile was measured in all subjects before and after treatment and-629C/A polymorphism of CETP promoter was studied using polymerase chain reaction/restriction fragment length polymorphism method. Data were compared with paired t-test and ANOVA in SPSS software. Cholesterol was decreased and HDL was increased in AA genotype more than other genotypes by lovastatin, but ApoA1 was increased in CC genotype. ApoA1 also was increased in CC genotype more than AA or AC genotypes by atorvastatin. In CC genotype, lovastatin and specially atorvastatin increased ApoA1 in HDL particles more than other genotypes. Therefore, treatment with lovastatin and atorvastatin is more effective in patients with CC genotype for raising HDL particles activity