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Showing 2 results for Valizadeh

Habib Onsori, Davood Poladi, Mehdi Valizadeh, Afshin Fathi, Mahshid Damandan, Rouhallah Moradpour,
Volume 8, Issue 3 (10-2020)
Abstract

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.
 

Fathi Afshin, Mehdi Valizadeh, Rouhallah Moradpoor, Mahshid Damandan, Firouz Amani,
Volume 9, Issue 3 (10-2021)
Abstract

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.


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