Jorjani Biomedicine Journal

Background and objective: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human diseases with approximately 400 million people affected worldwide. G6PD Chatham is caused by 1003 G>A mutation leads to a severe enzymatic deficiency. The aim of the present study is to investigate the frequency rate of the Chatham mutations in the population of the North-West of Iran.
Material And Method: In this study, by Rapid Genomic DNA Extraction (RGDE) method, from 90 peripheral blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was extracted and after digestion by Bstx1 enzymes, in order to search for Chatham mutation, they were analyzed by means of PCR-RFLP and sequencing methods.
Result: According to the results, Chatham mutation was observed in 10 samples (11.11%).
Conclusion: This study showed that G6PD Chatham (1003 G>A) mutation is the second common mutation, after Mediterranean (563C>T), in the population of the North-West of Iran. Further studies are recommended to identify the mutation type of other varieties.
 

Background and Objective: The aim of this study was to investigate the response of lipid profile, insulin resistance, and mitochondrial biogenesis index of obese rats to various exercise training.
Material and Methods: 24 rats were randomly divided into four groups of 6: 1) obese-interval training (HIIT); 2) obese-continuous training (CT); 3) obese control (OB) and 4) control (Cont). During the study period, (from 16 to 24 weeks) rats in groups 1, 2, and 3 were given high-fat foods (from 16 to 24 weeks). After being familiarized, rats in groups 1 and 2 performed HIIT and continuous training three times a week for eight weeks, respectively. Data were analyzed with one-way ANOVA and Bonferroni posthoc test (p≤0.05).
Results: A study of Western blotting showed that the amount of muscle PGC1α in HIIT and CT groups was significantly higher than OB and Cont groups. Also, despite the more reduction in visceral fat and other factors in the CT group, the HIIT groupchr('39')s PGC1α content was higher than the CT group, which was not significant. Serum levels of glucose, insulin, and insulin resistance in HIIT and CT groups (At 24 weeks) were significantly lower than the OB group (p≤0.05); However, these glycemic indices weren’t significantly different from the control group (P≥0.05). There was a significant difference in TG, TC, LDL, and HDL values between the exercise groups with the OB group. In addition, the increase in visceral fat was 27% in the OB group, while a decrease of 30% and 43% was observed in the HIIT and CT groups, respectively (P<0.05).
Conclusion: It seems that the use of HIIT can be as effective as continuous training on lipid profile, insulin resistance, and mitochondrial function of muscle tissue in obese people.

Background and Objective: Alpha-thalassemia (α-thal) appears to be the most common monogenic disorder worldwide. The diagnosis of α-thalassemia depends on the detection of Hemoglobin Bart (Hb Bart's) in newborns, which indicates one or more defective or absent α-globin genes. In addition, in patients with Hemoglobin H (Hb H), the Hb H range usually varies between 7-10 g / dL. Therefore, tracking Hb Bart's and Hb H can be useful in diagnosing thalassemia α. This study was performed to evaluate Hb Bart's and Hb H in infants with α thalassemia in Ardabil province, northwestern Iran.
Material and Methods: In this cross-sectional descriptive study, 33 infants with alpha thalassemia mutation, including infants born in Ardabil province, Iran in the years 2020 to 2019. Hemoglobin analysis was performed by capillary electrophoresis system.
Results: Hb H and Hb Bart's were detected in only two cases (6%) and three cases (9%). In this study, only 5 patients (15.15) were observable by detection of Hb Bart's and Hb H levels by electrophoresis. In cases of Hb Bart disease, -α3.7 was the most common genotype. Therefore, most infants with alpha thalassemia were lost when electrophoresis alone was used.
Conclusion: This study showed that molecular analysis of Hb Bart's newborns is necessary to confirm α-thalassemia. Capillary electrophoresis is a way to prevent the diagnosis of rare Hb H and Bart's disease.