Prevalence and Hematological Profile of Beta Thalassemia Trait in an Urban Indian Population
A Cross-Sectional Study from Chandigarh
DOI:
https://doi.org/10.64261/ijaarai.v1n2.003.Keywords:
Beta Thalassemia Trait, Hemoglobinopathy, Prevalence, High-Performance Liquid Chromatography, Genetic CounselingAbstract
Background: Beta Thalassemia Trait (BTT) is a prevalent inherited hemoglobin disorder in India, often undetected due to its asymptomatic presentation. Understanding its distribution and hematological profile in urban populations is essential for effective screening and prevention strategies. Objective: This study aimed to determine the prevalence and hematological characteristics of Beta Thalassemia Trait among patients in Chandigarh, a North Indian urban center, using a comprehensive diagnostic protocol. Methods: A cross-sectional study was conducted among 500 patients referred for anemia evaluation. Complete blood count (CBC), peripheral blood smear (PBS), serum ferritin, and High-Performance Liquid Chromatography (HPLC) were used for diagnosis. Individuals with elevated HbA₂ levels (>3.5%) and normal ferritin were identified as BTT carriers. Descriptive statistics were used to analyze demographic and hematological data. Results: Out of 500 screened individuals, 50 (10%) were diagnosed with BTT. The majority were females (70%), particularly in the 26–34 age group. Most were asymptomatic, though some reported fatigue or reproductive challenges. Hematologically, carriers showed reduced hemoglobin (mean: 9.5 g/dL), low MCV and MCH, normal ferritin, and PBS findings of microcytosis, hypochromia, and target cells. HPLC confirmed elevated HbA₂ (mean: 5.5%) and mild HbF elevation in select cases. Conclusion: The study reveals a significant prevalence of Beta Thalassemia Trait in Chandigarh, particularly among women of reproductive age. Routine screening, especially during antenatal care, and integration of genetic counseling and partner testing are crucial for preventing the transmission of Beta Thalassemia Major. Findings support the expansion of urban thalassemia screening programs in India.References
Ansari, S. H., & Shamsi, T. S. (2010). Thalassemia prevention programme. Haematology Journal, 95(3), 1–4.
Bain, B. J. (2006). Haemoglobinopathy diagnosis (2nd ed.). Blackwell Publishing.
Balgir, R. S. (2019). Genetic burden of hemoglobinopathies with special reference to scheduled tribes in India: An appraisal. Journal of Community Genetics, 10(1), 85–96. https://doi.org/10.1007/s12687-018-0367-2
Cappellini, M. D., Cohen, A., Porter, J., Taher, A., & Viprakasit, V. (2014). Guidelines for the management of transfusion-dependent thalassaemia (TDT) (3rd ed.). Thalassaemia International Federation.
Colah, R., Gorakshakar, A., & Nadkarni, A. (2010). Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Current Opinion in Hematology, 17(2), 121–127. https://doi.org/10.1097/MOH.0b013e3283364d3c
De Sanctis, V., Soliman, A. T., Yassin, M., Elsedfy, H., Skordis, N., Karimi, M., & Kattamis, C. (2013). Reproductive health in thalassemia: Current status and future perspectives. Mediterranean Journal of Hematology and Infectious Diseases, 5(1), e2013061. https://doi.org/10.4084/MJHID.2013.061
Galanello, R., & Origa, R. (2010). Beta-thalassemia. Orphanet Journal of Rare Diseases, 5, 11. https://doi.org/10.1186/1750-1172-5-11
Gharaibeh, H., Barqawi, M., & Aljbour, K. (2011). Knowledge and attitudes toward premarital screening for thalassemia among university students in Jordan. International Journal of Hematology-Oncology and Stem Cell Research, 5(1), 21–28.
Ghosh, K., Ghosh, K., & Shetty, S. (2009). β-thalassemia screening by NESTROFT: An answer in rural India. Indian Journal of Medical Research, 130, 709–710.
Hoffbrand, A. V., Higgs, D. R., Keeling, D. M., & Mehta, A. B. (2016). Postgraduate haematology (7th ed.). Wiley-Blackwell.
Indian Council of Medical Research (ICMR). (2018). Guidelines for hemoglobinopathies in India: Screening, diagnosis, and management. Ministry of Health and Family Welfare, Government of India.
Jain, H., & Bagul, A. S. (2018). Premarital screening for hemoglobinopathies: A review of awareness in India. Asian Journal of Transfusion Science, 12(2), 146–150. https://doi.org/10.4103/ajts.AJTS_112_17
Kapoor, S., & Agarwal, S. (2017). Screening for thalassemia and sickle cell anemia in India: Current perspectives and the way forward. Indian Journal of Community Medicine, 42(3), 149–150. https://doi.org/10.4103/ijcm.IJCM_254_17
Kattamis, C., Kourakli, A., & Ladis, V. (2013). Fertility in female thalassemia patients: A real possibility or an optimistic dream? Expert Review of Hematology, 6(1), 25–29. https://doi.org/10.1586/ehm.12.65
Kaur, G., & Kaur, R. (2023). Assessment of awareness regarding thalassemia among antenatal women. Journal of Family Medicine and Primary Care, 12(1), 105–110. https://doi.org/10.4103/jfmpc.jfmpc_301_22
Kumar, A., Sharma, S., & Varma, N. (2018). Diagnosis of beta thalassemia trait using red cell indices and ferritin: A reliable approach in resource-limited settings. Indian Journal of Hematology and Blood Transfusion, 34(1), 82–87. https://doi.org/10.1007/s12288-017-0845-9
Madan, N., Sharma, S., Sood, S. K., Colah, R., & Bhatia, H. M. (2010). Frequency of beta-thalassemia trait and other hemoglobinopathies in northern and western India. Indian Journal of Human Genetics, 16(1), 16–25. https://doi.org/10.4103/0971-6866.64939
Mamtani, M., Nadkarni, A., Kulkarni, H., Kulkarni, M., & Athalye, A. (2008). Reproductive decisions, premarital counseling, and carrier screening among families of children with thalassemia in India. Indian Pediatrics, 45(10), 819–822.
Mittal, R. D., & Agarwal, K. N. (2011). Iron deficiency and beta-thalassemia trait in adolescent school girls. Indian Pediatrics, 48(4), 305–306.
Narayan, R. (2006). Thalassaemia: Health burden and challenges. Indian Journal of Medical Research, 124, 507–510.
Patrinos, G. P., & Kollia, P. (2000). Diagnostic strategies for the identification of beta-thalassemia carriers: Emphasis on the “gold standard” methodology. Clinical Biochemistry, 33(7), 549–554. https://doi.org/10.1016/S0009-9120(00)00125-3
Pradhan, M., Das, K., & Nayak, S. (2014). Evaluation of HPLC as a screening tool for diagnosis of hemoglobinopathies. Indian Journal of Clinical Biochemistry, 29(4), 467–470. https://doi.org/10.1007/s12291-013-0384-4
Rund, D., & Rachmilewitz, E. (2005). Beta-thalassemia. New England Journal of Medicine, 353(11), 1135–1146. https://doi.org/10.1056/NEJMra050436
Sachdev, R., & Das, R. (2010). High performance liquid chromatography in hemoglobinopathies. Journal of Clinical and Diagnostic Research, 4(4), 2501–2506.
Sharma, A., & Patel, M. (2024). Community-based thalassemia carrier screening: Experience from a school and college-based program in Gujarat. Indian Journal of Public Health, 68(2), 112–116.
Sinha, A., Mishra, R., & Gupta, A. (2021). Beta thalassemia trait detection during antenatal visits: A cross-sectional study in a tertiary care hospital. Journal of Laboratory Physicians, 13(4), 298–303. https://doi.org/10.1055/s-0041-1730323
Singh, P., Deshmukh, R., & Tiwari, M. (2025). Evaluating the success of thalassemia screening programs in urban Maharashtra. Indian Journal of Genetics and Public Health, 10(1), 45–51.
Suthar, R., & Patel, M. (2014). Awareness of thalassemia among college students. National Journal of Community Medicine, 5(4), 400–404.
Verma, I. C., Saxena, R., & Kohli, S. (2016). Past, present and future scenario of thalassemia in India. Indian Journal of Medical Research, 134, 507–521.
Wadia, M., Bhave, A., & Mehta, P. (2014). Molecular basis of β-thalassemia and its implications for prenatal diagnosis and genetic counseling. Journal of Postgraduate Medicine, 60(1), 57–60.
Weatherall, D. J., & Clegg, J. B. (2001). The thalassemia syndromes (4th ed.). Blackwell Science.
World Health Organization. (2006). Management of hemoglobin disorders: Report of joint WHO-TIF meeting (Nicosia, Cyprus, 16–18 November 2006). World Health Organization
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