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Biomedicine

Volume: 46 Issue: 1

  • Open Access
  • Original Article

Prevalence of Hemoglobinopathies in a Tertiary Care Hospital

Zeel Patel1*, Faruq Mulla1

1Pathology, Pramukhswami Medical College, Bhaikaka University, Karamsad, Gujarat, India.

*Corresponding Author:
Faruq Mulla
Email: [email protected]

Year: 2026, Page: 76-80, Doi: https://doi.org/10.51248/v46i1.152

Received: Oct. 29, 2025 Accepted: March 17, 2026 Published: March 27, 2026

Abstract

Background: Hemoglobinopathies are among the most common inherited monogenic disorders worldwide, with significant prevalence in India, particularly in tribal and rural populations. Gujarat reports a high burden of both β-thalassemia and sickle cell disorders. Aim: To evaluate the spectrum and clinico-hematological profile of hemoglobinopathies in a tertiary care hospital. Methods: A retrospective and prospective descriptive study was conducted over four years (Jan 2021 to Dec 2024) at a tertiary hospital in Gujarat. A total of 100 confirmed cases of hemoglobinopathies were analyzed. Complete blood count and peripheral smear were performed in a NABL accredited laboratory, and data were analyzed. Results: The most common hemoglobinopathy was β-thalassemia trait (44%), followed by sickle cell disorders (27%) and sickle cell trait (24%). Rare variants included HbE+S (1%) and HbD-Punjab trait (1 %). Two cases of homozygous β-thalassemia were identified in children under 10 years. Clinical features included pallor, fever, and jaundice, particularly in sickle disorders and thalassemia major. Most cases belonged to OBC, SC, and ST communities. Conclusion: Hemoglobinopathies remain a significant public health challenge in Gujarat, with β-thalassemia trait being the most prevalent. Hemoglobin electrophoresis is a cost-effective screening tool that should be integrated into antenatal, premarital, and adolescent health programs. Genetic counselling and molecular follow-up are essential for long-term disease reduction.

Keywords: Hemoglobinopathies, Thalassemia, Sickle cell syndrome, Electrophoresis

References

1. WHO SEARO. Regional Desk Review of Hemoglobinopathies in India. New Delhi: World Health Organization; 2021

2. National Health Mission. NHM guidelines on prevention and control of hemoglobinopathies in India - Thalassemias, sickle cell diseases and other variant hemoglobins. New Delhi (India): Ministry of Health and Family Welfare, Government of India; 2016. p. 1–138.

3. Singh, P., Shaikh, S., Parmar, S., & Gupta, R. (2023). Current Status of β-Thalassemic Burden in India. Hemoglobin, 47(5), 181– 190.

4. Colah R, Gorakshakar A, Phanasgaonkar S, et al. Epidemiology of beta-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat. Br J Haematol. 2010;149(5):739–47

5. Patel AP, Naik MR, Shah NM, et al. Prevalence of common hemoglobinopathies in Gujarat: analysis of a large population screening programme. Natl J Community Med. 2012;3(1):112–6

6. Vachhani NA, Vekariya DJ, Colah RB, Kashiyani HN, Nandani SL. Spectrum of βthalassemia and other hemoglobinopathies in the Saurashtra region of Gujarat, India: analysis of a large population screening program. Hemoglobin 2022;46(3):187-93

7. Warghade S, Britto J, Haryan R, Dalvi T, Nadkarni A, Sawant P. Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65,779 cases. J Lab Physicians. 2018 Jan;10(1):73–9.

8. Patel AG, Shah AP, Sorathiya SM, Gupte SC. Hemoglobinopathies in South Gujarat population and incidence of anemia in them. Indian J Hum Genet. 2012 Sep;18(3):294-8. doi: 10.4103/0971-6866.107979. PMID: 23716936; PMCID: PMC3656517.

9. Mohanty SS, Parihar S, Huda RK, et al. Prevalence of sickle cell anemia, βthalassemia and glucose-6-phosphate dehydrogenase deficiency among the tribal population of Rajasthan. Clin Epidemiol Glob Health. 2022;13:100916].

10. Barbara J. Bain. Hemoglobin andand genetics of diagnosis. Hemoglobinopathy Diagnosis, editor. Hoboken: Wiley Blackwell; 2020. p. 1-29

11. Thein SL. Milestones in the history of hemoglobin research (In memory of Professor Titus H.J. Huisman). Presented at: International Conference on Hemoglobin Disorders; 2011 Feb 5–7; Kuwait

12. Cantú I, Philipsen S. Flicking the switch: adult hemoglobin expression in erythroid cells derived from cord blood and human induced pluripotent stem cells. Haematologica. 2014;99(11)

13. Sanchez-Villalobos M, Blanquer M, Moraleda JM, Salido EJ, Perez-Oliva AB. New insights into pathophysiology of βthalassemia. Front Med (Lausanne). 2022;9:1052255

14. Galanello, R., Cao, A. Alpha-thalassemia. Genet Med 13, 83–88 (2011)

15. StatPearls Authors. Laboratory evaluation of αthalassemia. StatPearls; 2023.

16. Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counselling and prenatal diagnosis in India experience at Sir Ganga Ram Hospital. Indian J Pediatr. 2003 Apr;70(4):2937.

17. Baig, Mirza A.; Swamy, KB1; Baksh, Ameen D.2; Bahashwan, Ahmed3; Moshrif, Yasser4; Al Sawat, Abdullah5; Al Mutairi, Nabeel6; Alharbi, Nader7. Evaluation of role of HPLC (Merits & Pitfalls), in the diagnosis of various hemoglobinopathies & thalassemic syndromes. Indian Journal of Pathology and Microbiology 64(3):p 518- 523, Jul–Sep 2021.

18. Patel GM, Parmar A, Zalavadiya D, Talati K. Tackling the menace of anemia and hemoglobinopathies among young adults – Conceptualizing university-level screening. Indian J Community Med 2021;46:117-20

19. Cherian S, Singh P, Patil S, Bhandarkar P, Jadhav VR. Spectrum of hemoglobinopathies detected on antenatal screening and diagnostic work-up in an urban healthcare set-up: a retrospective study. Journal of Clinical Diagnostic Research. 2022;16(1):EC21-25

20. Singh, Virender; Biswas, Amit Kumar1; Baranwal, Ajay Kumar1; Asthana, Bhushan2; Dahiya, Tejpal3. Prevalence of hemoglobinopathies using high-performance liquid chromatography as diagnostic tool in anemic patients of tertiary care center of Western India. Asian Journal of Transfusion Science 18(2):p 257-263

21. Hamed NF, Alatawi Y, AlKabbani D. Prevalence, risk factors and complications of sickle cell disease in Saudi Arabia: a systematic review. Cureus. 2024 Jul 24;16(7)

22. Jeppsson J-O, Kobold U, Barr J, Finke A, Hoelzel W, Hoshino T, et al. Comparison of Sebia Capillarys capillary electrophoresis with the Primus high-pressure liquid chromatography in the evaluation of hemoglobinopathies. Am J Clin Pathol. 2008;130(5):824–31

23. Periyavan S, Kumar S, Mamatha GN, Hegde S, Jain S, Dhanya R, Agarwal RK, Faulkner L. HPLC first approach in detecting thalassemia and other common hemoglobinopathies is more cost and time effective. Front Hematol. 2025;4:1461498.

24. Patel PN, Mistry PA, Gauswami PN. Study of high performance liquid chromatography in thalassemia and hemoglobinopathies at tertiary care centre. Int J Pharm Clin Res. 2024;16(6):2202-5.

25. Gasparini NP, Agriello EE, Zanella MJ, Iommi MP, Maradei J, Sandoval MJ. Síndrome drepanocítico. Asociación de hemoglobina S y β talasemia [Sickle cell syndrome. Association between hemoglobin S and β thalassemia]. Medicina (B Aires). 2016;76(6):369-372.

26. McPherson RA, Pincus MR. Henry's Clinical Diagnosis and Management by Laboratory Methods. 23rd ed. St. Louis: Elsevier Health Sciences; 2017. p. 590. 27. Arishi WA, Alhadrami HA, Zourob M. Techniques for the Detection of Sickle Cell Disease: A Review. Micromachines (Basel). 2021 May 5;12(5):519.

Cite this article

Zeel Patel, Faruq Mulla. Prevalence of Hemoglobinopathies in a Tertiary Care Hospital. Biomedicine: 2026, 46(1): 76-80

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