Angeline J Kezia, Jennifer H Gladius, C D Anand
School of Public Health, SRM Institute of Science and Technology, Kattankulathur Campus, Chengalpattu - 603 203, Tamil Nadu, India.
Department of Pathology, SRM Medical College Hospital and Research Centre, Kattankulathur campus, Chengalpattu - 603 203, Tamil Nadu, India.
Int J Hematol Oncol Stem Cell Res. 2025 Apr 1;19(2):109-117. doi: 10.18502/ijhoscr.v19i2.18548.
Hemoglobinopathies present a growing challenge to global healthcare resources. These disorders are monogenic: caused by a single gene, and they are inherited in an autosomal recessive manner from parents to offspring. Thalassemia and Sickle Cell Disease are the primary forms of Hemoglobinopathies. India has the highest prevalence of children affected by Thalassemia globally, with a population of 1-1.5 lakh children with Thalassemia, and every year, around 10,000-15,000 babies are born with this condition. This study attempted to estimate the disease burden of BetaHemoglobinopathies among the selected tribes residing in Dharmapuri, Tamil Nadu, India. This cross-sectional study includes the data from 62 study participants belonging to the tribes residing in Sitteri hills and Balajangamanahalli - a village in the plains of Nallampalli, Dharmapuri. A semi-structured questionnaire was administered to collect socio-demographic details, and 5 ml of blood was collected for hematological tests: Complete Blood Count (CBC), Peripheral Smear, and High-Performance Liquid Chromatography (HPLC). Out of the 62 study participants, 43% (n=27) were anemic. Chi-square test of association revealed significant associations between Gender and Anemia, Mentzer's Index and Anemia, and Mentzer's Index and HbA2. The present study has reported the disease burden of Beta-Hemoglobinopathies to be 37.1%, in which beta-thalassemia trait/minor was 24.19%, sickle cell beta-thalassemia, beta-thalassemia intermedia, beta-thalassemia major/intermedia, and sickle cell disease were 3.23% each. Family screening may be conducted to clarify the inheritance patterns of the disease, and genetic counseling should be offered to at-risk couples. To confirm the prevalence of hemoglobinopathies, genetic studies are required to confirm the type of mutations that cause Hemoglobinopathies.
血红蛋白病对全球医疗资源构成了日益严峻的挑战。这些疾病是单基因的：由单个基因引起，并且以常染色体隐性方式从父母遗传给后代。地中海贫血和镰状细胞病是血红蛋白病的主要形式。印度是全球受地中海贫血影响儿童患病率最高的国家，有10万至15万儿童患地中海贫血，并且每年约有1万至1.5万名婴儿患有这种疾病。本研究试图估算印度泰米尔纳德邦达马普里选定部落中β血红蛋白病的疾病负担。这项横断面研究纳入了来自居住在西泰里山和巴拉詹加马纳哈利（达马普里纳兰帕利平原上的一个村庄）部落的62名研究参与者的数据。采用半结构化问卷收集社会人口学详细信息，并采集5毫升血液进行血液学检测：全血细胞计数（CBC）、外周血涂片和高效液相色谱（HPLC）。在62名研究参与者中，43%（n = 27）患有贫血。关联的卡方检验显示性别与贫血、门策尔指数与贫血以及门策尔指数与HbA2之间存在显著关联。本研究报告β血红蛋白病的疾病负担为37.1%，其中β地中海贫血特征/轻型为24.19%，镰状细胞β地中海贫血、中间型β地中海贫血、重型/中间型β地中海贫血和镰状细胞病各为3.23%。可进行家庭筛查以明确疾病的遗传模式，并应为有风险的夫妇提供遗传咨询。为确认血红蛋白病的患病率，需要进行基因研究以确认导致血红蛋白病的突变类型。
