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Premarital screening of college students for carrier detection in thalassemia and sickle cell disease: need of the hour

Sonali Datar, Sandhya Poflee, Anuradha Shrikande.




Abstract

Background: Hemoglobinopathies are a group of inherited conditions characterized by quantitative and qualitative abnormalities in the synthesis of hemoglobin. In India, the most prevalent hemoglobinopathies are thalassemia and sickle cell anemia. To reduce the burden of highly prevalent monogenic disorders, it is essential that disease progression be halted at the carrier stage. This can be done by carrier detection and genetic counseling in young individuals. In Central India, where prevalence of thalassemia and sickle cell anemia is high, premarital screening is being implemented for the first time in medical students for identification of asymptomatic carriers of these hemoglobinopathies and possible prevention of future high-risk marriages by genetic counseling.

Objectives: The objectives of this study were to (1) determine the prevalence of asymptomatic carriers of sickle cell disease and thalassemia in first-year MBBS students; and (2) know the frequency of hemoglobinopathy carriers in different ethnic groups of this study group.

Materials and Methods: This study was conducted at a Regional Hemoglobinopathy Detection and Management Centre of a tertiary-care hospital in central India in newly admitted medical students and was approved by the institutional ethics committee. Venous blood samples were analyzed for blood counts and solubility test positivity. Electrophoresis for pattern analysis and high-performance liquid chromatography for confirmation of diagnosis were used on each student. Results were analyzed with the help of statistical analysis.

Results: Overall prevalence of hemoglobinopathies was 10%. Beta-Thalassemia trait was the most prevalent hemoglobinopathy followed by sickle cell trait. Presence of hemoglobinopathies was seen in varied ethnic groups.

Conclusion: Importance of screening in young asymptomatic individuals is highlighted.

Key words: Hemoglobinopathies, sickle cell anemia, thalassemia, premarital screening






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