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

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Annals of African Medicine Pub Date : 2025-03-24 DOI:10.4103/aam.aam_207_24

Nitu Nigam, Ruchi Gupta, Madan Lal Brahma Bhatt, Swasti Sinha, Nishant Verma, Sanjay Kumar Nigam, Shailendra Prasad Verma, Kirti Upadhyay, Surbhi Gupta

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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.

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新地中海贫血变异血红蛋白 J 在广泛的塔鲁人中的流行和检测。

背景：地中海贫血是一种常染色体隐性遗传病，它破坏血红蛋白的产生，导致不同程度的贫血和相关的健康问题。在尼泊尔南部和印度北部的特莱地区，塔鲁人的血红蛋白病发病率很高，包括β和α型地中海贫血。目的和目的：本研究旨在确定北方邦拉金普尔Kheri地区塔鲁学龄儿童血红蛋白病的患病率，以及相关的血液学和人口统计学特征。材料和方法：该研究与国家医疗组织（NMO）和Rashtriya Swayamsevak Sangh （RSS）合作，于2023年2月22日至26日进行。他们从在校学生身上采集了369份血样。采用高效液相色谱（HPLC）技术，利用BIORAD VARIANT算法诊断地中海贫血特征和血红蛋白病变。通过统计学分析评估血液学指标、诊断结果和人口统计学因素之间的关系。结果：(1)正常病例：78.8%的参与者被归为正常。(2) β地中海贫血杂合：6.2%。(3) HbJ Meerut杂合：4.0%。(4) HbS杂合率：9.8%。性别与诊断有显著相关性（p=0.001），年龄与诊断无显著相关性（p= 0.846）。血液学指标：平均红细胞体积（Mean Corpuscular Volume， MCV）、平均红细胞血红蛋白（Mean Corpuscular Hemoglobin， MCH）在诊断组间差异有统计学意义（P < 0.05）。血红蛋白类型Hb A、Hb F和Hb A2的变化具有统计学意义（P < 0.001）。结论：该研究强调了在Tharu社区中血红蛋白病的高患病率，强调了准确诊断和有效管理该疾病的认识运动的必要性。通过减少耻辱感和向社区提供知识，这些努力可以改善地中海贫血和相关疾病患者的预后。

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来源期刊

Annals of African Medicine MEDICINE, GENERAL & INTERNAL-

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0.90

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0.00%

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期刊介绍： The Annals of African Medicine is published by the Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria and the Annals of African Medicine Society. The Journal is intended to serve as a medium for the publication of research findings in the broad field of Medicine in Africa and other developing countries, and elsewhere which have relevance to Africa. It will serve as a source of information on the state of the art of Medicine in Africa, for continuing education for doctors in Africa and other developing countries, and also for the publication of meetings and conferences. The journal will publish articles I any field of Medicine and other fields which have relevance or implications for Medicine.