STUDY OF HEMATOLOGICAL FINDINGS AND CHARACTERISATION OF HEMOGLOBIN BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN CASES OF HEMOGLOBINOPATHIES

Abstract

Introduction:
Hemoglobinopathies including sickle cell disease and thalassemia are prevalent genetic disorders affecting hemoglobin molecule. Hematological parameters, blood smear examination and HPLC together allow for effective differentiation among various hemoglobinopathies, facilitating timely intervention, genetic counseling.
Objective:
This study aimed to study the haematological and HPLC findings in various cases of hemoglobinopathies.
Materials And Methods:
A retrospective analysis was conducted on 585 individuals diagnosed with hemoglobinopathies at the Tertiary Health Centre over one year. All the confirmed cases of hemoglobinopathies by HPLC were retrospectively analysed for Hemoglobin %, RBC indices, and detailed HPLC reports. Data were collected and analysed using SPSS.
Results:
Among the 585 cases, 47.35% were aged 15-30, with a predominance of females (67.18%). Sickle cell trait was the most common (392 cases), followed by beta thalassemia trait (83 cases). Additionally, 4 rare variants of haemoglobin were identified. Beta-thalassemia major had a severe reduction in Hb%. HPLC revealed distinct haemoglobin profiles across disorders, with significant variations in HbA, HbA2, and HbF levels along with the appearance of variant Hb window.
Conclusion:
Haematological parameters help in the effective screening of hemoglobinopathies. With its high sensitivity and specificity, HPLC enables precise identification and quantification of abnormal haemoglobin variants. These diagnostic tools allow effective differentiation among various hemoglobinopathies, facilitating timely intervention, genetic counselling, and family planning guidance.