印度东北部上阿萨姆地区β地中海贫血及其与血红蛋白E和血红蛋白S的共存情况：一项基于医院的研究
β-Thalassaemia and its Co-existence with Haemoglobin E and Haemoglobin S in Upper Assam Region of North Eastern India: A Hospital Based Study.
作者信息
Teli Anju Barhai, Deori Rumi, Saikia Sidhartha Protim, Pathak Kalyani, Panyang Rita, Rajkakati Rashmi
机构信息
Associate Professor, Department of Biochemistry, Assam Medical College & Hospital , Dibrugarh, Assam, India .
Assistant Professor, Department of Biochemistry, Assam Medical College & Hospital , Dibrugarh, Assam, India .
出版信息
J Clin Diagn Res. 2016 Apr;10(4):GC01-4. doi: 10.7860/JCDR/2016/16265.7675. Epub 2016 Apr 1.
INTRODUCTION
β-Thalassaemias are common genetic disorders in the Indian subcontinent and its status has not been well studied in the Upper Assam region of North Eastern India.
AIM
The aim of the study was to show the prevalence of β- thalassaemias and its co-existence with Haemoglobin E and Haemoglobin S in the Upper Assam region of North Eastern India.
MATERIALS AND METHODS
A total of 1200 anaemic patients were investigated for β- thalassaemias. Complete Blood Count (CBC) and High Performance Liquid Chromatography (HPLC) were done for screening.
RESULTS
Out of 1200 patients screened, 5.83% β-thalassaemia trait, 2.33% compound Hb E/β-Thalassaemia, 1.33% β-thalassaemia major and 0.42% compound Hb S/β- thalassaemia were detected. A high incidence of thalassaemia is found among the people of Upper Assam region of North Eastern India.
CONCLUSION
The only way to prevent the disease is carrier detection and awareness among the people about it.
引言
β地中海贫血是印度次大陆常见的遗传性疾病，而在印度东北部上阿萨姆地区，其发病情况尚未得到充分研究。
目的
本研究旨在揭示印度东北部上阿萨姆地区β地中海贫血的患病率及其与血红蛋白E和血红蛋白S的共存情况。
材料与方法
共对1200例贫血患者进行了β地中海贫血调查。通过全血细胞计数（CBC）和高效液相色谱法（HPLC）进行筛查。
结果
在1200例接受筛查的患者中，检测到5.83%的β地中海贫血特征、2.33%的血红蛋白E/β地中海贫血复合症、1.33%的重型β地中海贫血和0.42%的血红蛋白S/β地中海贫血复合症。在印度东北部上阿萨姆地区的人群中发现了较高的地中海贫血发病率。
结论
预防该疾病的唯一方法是进行携带者检测并提高人们对其的认识。
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