Laboratory parameters of β thalassemia minor patients visiting BPKIHS as diagnosed by Agarose Gel Electrophoresis

Abstract

Introduction: Thalassemia is one of the most common genetic disorders worldwide. The current study aims at various laboratory parameters including agarose gel electrophoresis (AGE) pattern of patients consistent with clinical symptoms of β thalassemia minor.

Methods: A total of 78 blood samples collected from patients visiting BPKIHS, Dharan to workup for anemia and red blood cell indices. From these 78 patients, 8 samples were suspected of β thalassemia minor and were included in the study. The patients were divided in two groups,  adult above 15 years of age and children less than 15 years of age. These samples were further investigated using various laboratory indices including electrophoresis.

Results: β-thalassemia minor was detected in 8 cases with various hematological parameters  and electrophortic mobilities. The electrophoretic mobility pattern revealed that the patient had increased HbA2 and HbF band and decreased HbA1 band. Among hematological parameters, the mean hemoglobin was 8.1± 2.3gm% in >15 years age group and 3.9± 1.7 in <15 years age group, Peripheral smear revealed microcytic, hypochromic, anisopoikilocytic, target cells and solubility test for sickle cell was negative for all samples. The median unconjugated bilirubin level was 1.95 (IQR: 1.6-2.1) in <15 yrs and 2.25 (IQR: 1.7-7.7) in >15 yrs, the median reticulocyte count was 1.65 (IQR: 0.55-2.3) in <15 yrs and 1.8 (IQR: 1-5) in >15 yrs, Reticulocyte production Index was less than two, median HbF was 7.5 (IQR: 4.2-25) in <15 yrs and 8 (IQR: 1.7-18) >15 yrs , median PCV was 23.4 (IQR: 19.5-25.9) in <15 yrs and 14.6 (IQR: 12.2-16.8) in > 15 yrs. The study also revealed that the β-thalassemia was predominant among Tharus (50%) compare to other ethnicity.

Conclusion: Patients of β thalassemia minor showed decrease in hemoglobin, increased unconjugated bilirubin, abnormal peripheral smear, and abnormal hemoglobin pattern on electrophoretogram.