Mondal Santosh Kumar, Mandal Saikat
Department of Pathology, Bankura Sammilani Medical College, Bankura, India.
Department of Pathology, Medical College, Kolkata, West Bengal, India.
Asian J Transfus Sci. 2016 Jan-Jun;10(1):105-10. doi: 10.4103/0973-6247.175424.
Hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Proper timely identification of these disorders is of paramount importance to prevent thalassemia major and clinically severe hemoglobinopathy as well as for epidemiologic purposes.
Our aim was to determine the prevalence of thalassemia and hemoglobinopathy in patients of a tertiary care hospital of West Bengal, India.
This prospective study was conducted on 119,336 cases over a period of 10 years. After taking clinical history and familial history, complete hemogram report was obtained by an automated cell counter. High-performance liquid chromatography (HPLC) was performed on the samples with Bio-Rad Variant using beta thalassemia short program. Confirmatory tests were performed whenever required.
A normal Hb pattern was observed in 104,804 (87.83%) cases and abnormalities were detected in 14,532 (12.17%) patients. β (beta) thalassemia trait was the commonest abnormality found in 5,488 (4.60%) patients. HbE trait was found in 3,604 (3.02%) patients, β thalassemia major/intermedia in 1,981 (1.66%) cases, and Eβ thalassemia in 1,384 (1.16 %) cases. Other variants detected included HbE disease, sickle-cell disease, sickle β thalassemia, HbD-Punjab trait, HbQ-India trait, α-thal trait, double heterozygous state of HbS and HbE, double heterozygous state of HbS and HbD, HbJ-Meerut, hereditary persistence of fetal hemoglobin (HPFH), HbH, delta β-thal trait, and Hb Lepore.
In view of the high prevalence of hemoglobinopathy in this region, a routine premarital screening program is needed for the identification and prevention of high-risk marriages and thus, prevention of the psychosocial trauma of bearing a transfusion-dependent child for life.
遗传性血红蛋白（Hb）疾病是印度最常见的单基因疾病。及时准确地识别这些疾病对于预防重型地中海贫血和临床严重的血红蛋白病以及流行病学研究至关重要。
我们的目的是确定印度西孟加拉邦一家三级护理医院患者中地中海贫血和血红蛋白病的患病率。
这项前瞻性研究在10年期间对119336例病例进行。采集临床病史和家族史后，通过自动血细胞计数器获得完整的血常规报告。使用Bio-Rad Variant的β地中海贫血短程序对样本进行高效液相色谱（HPLC）分析。必要时进行确证试验。
104804例（87.83%）病例观察到正常的Hb模式，14532例（12.17%）患者检测到异常。β地中海贫血特征是最常见的异常，在5488例（4.60%）患者中发现。HbE特征在3604例（3.02%）患者中发现，重型/中间型β地中海贫血在1981例（1.66%）病例中发现，Eβ地中海贫血在1384例（1.16%）病例中发现。检测到的其他变异包括HbE病、镰状细胞病、镰状β地中海贫血、HbD-旁遮普特征、HbQ-印度特征、α地中海贫血特征、HbS和HbE的双重杂合状态、HbS和HbD的双重杂合状态、HbJ-密拉特、胎儿血红蛋白遗传性持续存在（HPFH）、HbH、δβ地中海贫血特征和Hb Lepore。
鉴于该地区血红蛋白病的高患病率，需要开展常规的婚前筛查项目，以识别和预防高危婚姻，从而预防终生生育依赖输血孩子所带来的心理社会创伤。
