تشخیص بیماری های Hb Bart و Hb H ناشی از حذف شایع α3.7- با استفاده از الکتروفورز در استان اردبیل

عنوان انگليسی

Detection of Hb Bart's and Hb H Diseases Caused by -α3.7 Prevalent Deletion Using Capillary Electrophoresis in Ardabil Province

خلاصه انگلیسی

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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