Abstract
Introduction: Hemoglobinopathies are a serious genetic health problem responsible for severe morbidity and mortality worldwide and in India.
Aim & Objective: To analyze the value and limitations of diagnostics like hematological profile, HPLC with parental study and ethnicity for detection of Hemoglobinopathies.
Materials and Method: A total of 2684 cases were screened in a District Hospital based population over a period of 3 years. HPLC was performed on D-10 Biorad analyser and hematological profile was done on 3 part Automated Hematology analyser.
Observation: 238 cases were identified with abnormal variants. β Thalassemia trait was commonest followed by HbS and HbE disease. Migration and settlement of populations from different parts of the country to Goa has resulted in diverse spectrum of hemoglobin disorders.
Borderline HbA2, elution of variants in common window, few rare variants, existence of silent mutations, β Thalassemia causes difficulty in interpretation and requires genetic study for confirmation.
Conclusion: HPLC, hematological profile, family study can help to detect hemoglobinopathies and can be used as a screening tool.
Keywords: HPLC, Hemoglobin variants, Borderline HPLC.
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Corresponding Author
Dr Krupa Jog
North District Hospital, Peddem, Mapusa, Goa, Pin 403507
DOI: https://dx.doi.org/10.18535/jmscr/v8i12.31
