Narang Vikram, Jain Anshul, Grover Sumit, Soni Ankita, Narang Monika, Taneja Ashima
Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Department of Obstetrics and Gynecology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):564-567. doi: 10.4103/ijpm.ijpm_2_22.
Thalassemia and hemoglobinopathies are a group of inherited conditions characterized by abnormalities in the synthesis or structure of hemoglobin (Hb). According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. To reduce the burden of these highly prevalent monogenic disorders, detecting them in the carrier stage is crucial to prevent disease progression.
We aimed to estimate the prevalence and spectrum of hemoglobinopathies in females in the reproductive (20-40 years) age group.
It was a retrospective observational study carried out for 2.5 years (from January 2018 till June 2020).
All the females in the age group of 20-40 years age whose blood samples were received in the department for High-Performance Liquid Chromatography (HPLC) were included. The cases with abnormal HPLC findings were analyzed for hematological parameters including hemoglobin, RBC count, and RBC indices [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), & red cell distribution width - coefficient of variation (RDW-CV)].
Statistical package for social science (SPSS) statistics 21 version for Microsoft Windows (Chicago, USA) was used for statistical analysis of data. The data were described in terms of range, mean ± standard deviation (SD), frequencies (number of cases), and relative frequencies (percentage) as appropriate.
During the study period, 72.2% of the females were affected with β-thalassemia trait, followed by HbD Punjab trait (17.8%), HbQ India trait (2.9%), β-thalassemia major (1.8%), and two cases (1.2%) each of HbS trait, HbD Iran trait, and compound heterozygous of HbD Punjab and β-thalassaemia, whereas HbE trait, compound heterozygous of HbQ and β-thalassemia, compound heterozygous of HbJ-variant and β-thalassemia had one case each (0.6%).
Preventive strategies are cost-effective and include population screening, premarital screening, screening of spouses, genetic counseling, and prenatal diagnosis. Educating the carrier females about the potential risk and various screening methods may help in controlling the disease.
地中海贫血和血红蛋白病是一组遗传性疾病，其特征是血红蛋白（Hb）合成或结构异常。据估计，全球约7%的人口是血红蛋白病携带者，导致高发病率和死亡率。为减轻这些高度流行的单基因疾病的负担，在携带者阶段进行检测对于预防疾病进展至关重要。
我们旨在估计生殖年龄组（20 - 40岁）女性中血红蛋白病的患病率和谱系。
这是一项为期2.5年（从2018年1月至2020年6月）的回顾性观察研究。
纳入所有年龄在20 - 40岁且血液样本被送至高效液相色谱（HPLC）科室的女性。对HPLC结果异常的病例分析血液学参数，包括血红蛋白、红细胞计数和红细胞指数[平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、平均红细胞血红蛋白浓度（MCHC）以及红细胞分布宽度变异系数（RDW - CV）]。
使用适用于Microsoft Windows（美国芝加哥）的社会科学统计软件包（SPSS）统计21版对数据进行统计分析。数据根据范围、均值±标准差（SD）、频率（病例数）和相对频率（百分比）进行适当描述。
在研究期间，72.2%的女性患有β地中海贫血特征，其次是HbD旁遮普特征（17.8%）、HbQ印度特征（2.9%）、β地中海贫血重型（1.8%），以及HbS特征、HbD伊朗特征和HbD旁遮普与β地中海贫血复合杂合子各2例（1.2%），而HbE特征、HbQ与β地中海贫血复合杂合子、HbJ变异体与β地中海贫血复合杂合子各有1例（0.6%）。
预防策略具有成本效益，包括人群筛查、婚前筛查、配偶筛查、遗传咨询和产前诊断。对携带者女性进行潜在风险和各种筛查方法的教育可能有助于控制疾病。
