Objective: To determine the types, frequency, and hematological profile by hemoglobin electrophoresis of patients with suspected hemoglobinopathies.
Methodology: This prospective cross-sectional study was conducted in Pathology department of Pakistan Institute of Medical Sciences (P.I.M.S), from July 2023 – June 2024. Hemoglobin electrophoresis of patients was done, who presented in pathology department with suspected hemoglobinopathies or for screening purpose.
Result: Mean age of 110 patients in this study was 17.7±13.5 years. On hemoglobin electrophoresis, 70.9% of cases were of beta thalassemia trait and 10.9% were of beta thalassemia major. The lowest hemoglobin levels (5.7±1.7 g/dl) and highest red cell distribution width (RDW) levels (34.2±5.9) were observed in beta-thalassemia major patients. We observed a significant association (p=0.019) between pallor and hemoglobinopathies as well as between age and presence of hemoglobinopathies (p=0.000), with most patients presenting at a younger age.
Conclusion: This study showed the spectrum of hemoglobinopathies in our study population with beta thalassemia trait as most common. Early diagnosis of hemoglobinopathies can have significant impact on prompt treatment, screening, and genetic counselling.
Key words: Hemoglobinopathy, hemoglobin electrophoresis, thalassemia, hemoglobin.
|
