Detection of Hb Bart's and Hb H Diseases Caused by -α۳.۷ Prevalent Deletion Using Capillary Electrophoresis in Ardabil Province
Publish place: Jorjani Biomedicine Journal، Vol: 9، Issue: 3
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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JR_JOBJ-9-3_008
تاریخ نمایه سازی: 1 آبان 1400
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 ۷-۱۰ 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, ۳۳ infants with alpha thalassemia mutation, including infants born in Ardabil province, Iran in the years ۲۰۲۰ to ۲۰۱۹. Hemoglobin analysis was performed by capillary electrophoresis system.
Results: Hb H and Hb Bart's were detected in only two cases (۶%) and three cases (۹%). In this study, only ۵ patients (۱۵.۱۵) were observable by detection of Hb Bart's and Hb H levels by electrophoresis. In cases of Hb Bart disease, -α۳.۷ 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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Authors
Fathi Afshin
Pediatric Hematology and Oncology Department, Ardabil University of Medical Science, Ardabil, Iran
Mehdi Valizadeh
Unit of Genomics Research, Digestive Diseases Research Center, Ardabil University of Medical Sciences, Ardabil, Iran
Rouhallah Moradpoor
Center for Cell Pathology Research, Department of Life Science, Khazar University, Baku, Azerbaijan
Mahshid Damandan
Center for Cell Pathology Research, Department of Life Science, Khazar University, Baku, Azerbaijan
Firouz Amani
Department of Community Medicine, Ardabil University of Medical Science, Ardabil, Iran
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