Pichamuthu Bala Ganesh, Arunachalam Kantha Deivi, Kosalram Kalpana
School of Public Health, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, India.
Department of Health Sciences Marwadi University, Rajkot, Gujarat, India.
J Family Med Prim Care. 2024 Jul;13(7):2767-2771. doi: 10.4103/jfmpc.jfmpc_157_24. Epub 2024 Jun 14.
Mutations affecting transcription, translation, or beta-globin stability, among other stages of beta-globin production, cause beta-thalassemia.
Beta-thalassemia results in a high red blood cell count with a low mean corpuscular volume (60-70fl) and mean corpuscular hemoglobin (19-23pg), and Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) is recommended for mass screening of populations. Among tribals in Dharmapuri district, this cross-sectional analysis evaluated the efficacy of RBC and NESTROFT against HPLC, regarded as the gold standard, in a study involving 484 subjects.
Findings indicated that out of the 484 samples, 73 tested positive for the beta-thalassemia trait through HPLC. The NESTROFT test demonstrated 87% sensitivity, 98.5% specificity, a positive predictive value of 99.3%, and a negative predictive value of 73.3%. In the multivariate analysis, NESTROFT and hemoglobin showed high significance with values of 0.003 and 0.000, respectively.
NESTROFT's high sensitivity is particularly noteworthy due to the absence of research among the Malayali tribes in the Dharmapuri district. Adoption of this preliminary test shows promise in detecting the disease at the local level, providing important information for early detection, especially considering the sizeable tribal population.
影响转录、翻译或β-珠蛋白稳定性等β-珠蛋白生成阶段的突变会导致β-地中海贫血。
β-地中海贫血导致红细胞计数高，平均红细胞体积低（60 - 70fl）和平均红细胞血红蛋白低（19 - 23pg），裸眼单管红细胞渗透脆性试验（NESTROFT）被推荐用于人群大规模筛查。在达摩布里区的部落人群中，这项横断面分析在一项涉及484名受试者的研究中评估了红细胞计数和NESTROFT相对于被视为金标准的高效液相色谱法（HPLC）的有效性。
研究结果表明，在484个样本中，通过HPLC检测出73个样本的β-地中海贫血特征呈阳性。NESTROFT试验显示出87%的灵敏度、98.5%的特异性、99.3%的阳性预测值和73.3%的阴性预测值。在多变量分析中，NESTROFT和血红蛋白显示出高度显著性，P值分别为0.003和0.000。
由于在达摩布里区的马拉雅利部落中缺乏相关研究，NESTROFT的高灵敏度尤其值得关注。采用这项初步检测方法有望在当地层面检测出该疾病，为早期检测提供重要信息，特别是考虑到部落人口规模较大的情况。
