The Role of Capillary Zone Electrophoresis in Hemoglobinopathy Diagnosis

Hemoglobinopathies are inherited blood disorders that affect the hemoglobin molecule, the protein in red blood cells that carries oxygen. These disorders can be caused by mutations in the genes that code for the globin chains that make up hemoglobin. They can result in abnormal hemoglobin structure, reduced hemoglobin production, or both. The purpose of the present study was to evaluate the prevalence of hemoglobninopathies detected by capillary electrophoresis method in individuals by capillary electrophoresis method. Methods: This study was carried out on 395 individuals referred medical college. Blood samples were collected in EDTA vacutainer tubes, then CBC including blood indexes (MCV, MCH), level of Hemoglobin A, Hb F, Hb A2 and other hemoglobin’s were evaluated and also genetic tests applied for them to confirm results that were acquired by capillary electrophoresis method. Results: 77 (19.7%) subjects had HbA2 ≥3.5%, thus were classified as beta thalassemia carrier and 3.3%, 2.5%, 1.5% and 0.5% of the individuals were heterozygote for Hb S, Hb D, Hb C and Hb Bart, respectively. Results of the genetic analysis showed the mutations in these subjects; cd36-37(-T) was the most frequent mutation in beta thalassemia carriers in this geographic region. Conclusion: This study showed high frequency of beta thalassemia mutations in the (19.7), and 7.85% of the individuals had hemoglobin variants including Hb S, Hb D and Hb C detected by capillary electrophoresis. Capillary electrophoresis could be used for detection of hemoglobinopathies.