Division of Genetic Disorders, Indian Council of Medical Research-National Institute of Research in Tribal Health, Jabalpur, Madhya Pradesh State, India.
Hemoglobin. 2020 Nov;44(6):391-396. doi: 10.1080/03630269.2020.1848859. Epub 2020 Nov 22.
Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for various hemoglobinopathies and to estimate the prevalence and plausible cause of anemia. The present study screened a total of 3992 tribal individuals comprised of students of Tribal schools, ashrams of Dindori, Mandla, and Chhindwara districts of Madhya Pradesh State. Screening of hemoglobinopathies was done using Hb electrophoresis and or high performance liquid chromatography (HPLC), α-thalassemia (α-thal) was detected using polymerase chain reaction (PCR). The median age of the studied cohort was 15 years (interquartile range 13-16 years). High prevalence (76.7%) of anemia was observed among the studied cohort. The prevalence of sickle cell trait and sickle cell disease varies from 10.7 to 15.6% and 0.4 to 0.8%, respectively. The allele frequency of sickle cell gene was highest in the Pradhan tribe followed by the Panika tribe. Dindori district had the highest prevalence of sickle cell trait. β-Thalassemia (β-thal) trait was observed in only 1.4% of the screened population. α Gene deletions were observed in 84.7% individuals. Significant association of α gene deletion mutations with mean Hb, mean corpuscular volume (MCV), and mean corpuscular Hb (MCH) was observed. The Bharia tribe showed the highest prevalence for α-thal. For comprehensive health care, effective intervention programs are needed to reduce the high prevalence of anemia and hemoglobinopathies among tribes.
尽管印度中央邦部落人群中估计存在较高的遗传性血红蛋白 (Hb) 疾病流行率,但疾病负担尚不清楚,导致发病率高,并伴有相关死亡率。我们的目的是筛查中央邦指定部落地区的部落人群,以了解各种血红蛋白病的患病率,并评估贫血的患病率和可能病因。本研究共筛查了来自中央邦 Dindori、Mandla 和 Chhindwara 地区部落学校学生、部落收容所的 3992 名部落个体。使用血红蛋白电泳和/或高效液相色谱法 (HPLC) 筛查血红蛋白病,使用聚合酶链反应 (PCR) 检测α-地中海贫血 (α-thal)。研究队列的中位年龄为 15 岁(四分位间距 13-16 岁)。研究队列中观察到贫血的高患病率(76.7%)。镰状细胞特征和镰状细胞病的患病率在 10.7%至 15.6%和 0.4%至 0.8%之间不等。镰状细胞基因的等位基因频率在 Pradhan 部落最高,其次是 Panika 部落。Dindori 区的镰状细胞特征患病率最高。β-地中海贫血 (β-thal) 特征仅在筛查人群的 1.4%中观察到。α 基因缺失在 84.7%的个体中观察到。α 基因缺失突变与平均 Hb、平均红细胞体积 (MCV) 和平均红细胞 Hb (MCH) 显著相关。Bharia 部落的α-thal 患病率最高。为了全面的医疗保健,需要实施有效的干预计划来降低部落人群中贫血和血红蛋白病的高患病率。