Prevalence and Detection of Novel Thalassemia Variant hemoglobin J in Extensive Tharu Population.

Abstract

Background: Thalassemia is an autosomal recessive genetic disorder that disrupts hemoglobin production, resulting in varying degrees of anemia and associated health problems. In the Terai region of southern Nepal and northern India, the Tharu people has a high prevalence of hemoglobinopathies, including beta and alpha thalassemia.

Aims and objectives: This study sought to ascertain the prevalence of hemoglobinopathies in Tharu school-age children in Lakhimpur Kheri, Uttar Pradesh, as well as the associated hematological and demographic traits.

Materials and methods: In cooperation with the National Medical Organization (NMO) and Rashtriya Swayamsevak Sangh (RSS), the study was carried out between February 22-26, 2023. 369 blood samples were taken from youngsters enrolled in school. The BIORAD VARIANT algorithm was utilized to diagnose thalassemia characteristics and hemoglobinopathies using High Performance Liquid Chromatography (HPLC). The relationships between hematological markers, diagnostic results, and demographic factors were assessed by statistical analysis.

Results: (1) Normal cases: 78.8% of participants were classified as normal. (2) Beta thalassemia heterozygous: 6.2%. (3) HbJ Meerut heterozygous: 4.0%. (4) HbS heterozygous: 9.8%. Statistical analysis revealed a significant association between sex and diagnosis (p=0.001), while no significant association was observed between age and diagnosis (P = 0.846). Hematological parameters, including Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH), differed significantly across diagnostic groups (P < 0.05). Variations in hemoglobin types Hb A, Hb F, and Hb A2 were statistically significant (P < 0.001).

Conclusion: The study highlights a high prevalence of hemoglobinopathies within the Tharu community, emphasizing the need for accurate diagnosis and awareness campaigns to manage the disorder effectively. By reducing stigma and empowering the community with knowledge, these efforts can improve outcomes for individuals with thalassemia and related disorders.