Baruah Mrinal Kumar, Saikia Malavika, Baruah Aditi
Department of Hematology, Madonna Diagnostic and Research Centre, Assam, India.
Indian J Pathol Microbiol. 2014 Apr-Jun;57(2):236-43. doi: 10.4103/0377-4929.134680.
The hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Data pertaining to the pattern of hemoglobinopathies and thalassemias is scarce in North East India, and hence it was considered worthwhile to study these disorders using a large series of patients referred to a clinical diagnostic laboratory.
A total of 9000 patients referred for Hb variant analysis were studied to identify hemoglobinopathies and thalassemias in Upper Assam region of North East India.
This study was performed by high performance liquid chromatography (HPLC) using BIORAD variant Hb typing system.
Out of 9000 patients studied, abnormal Hb fractions were seen in 5320 patients. The HbE gene was detected in 4315 patients of which HbE trait was seen in 2294 followed by HbE disease in 1892. There were 114 HbE beta thalassemia patients and 15 double heterozygotes of HbE with HbS or HbD. Beta thalassemia trait was seen in 313 patients and beta thalassemia homozygous in 32. HbS gene was detected in 460 patients comprising of HbS trait in 189, HbS disease in 203, S beta thalassemia in 53 and double heterozygotes of SD and ES in 15. The rest comprised of HbD trait in 6, delta beta thalassemia in 33, hereditary persistence of fetal hemoglobin trait in 5 and J chain hemoglobinopathy in 8 patients. Evidence of alpha thalassemia though suspected, could not be confirmed.
A high incidence of hemoglobinopathies and thalassemias and their combinations is unique for this part of the country.
遗传性血红蛋白（Hb）疾病是印度最常见的单基因疾病。印度东北部有关血红蛋白病和地中海贫血模式的数据稀缺，因此，使用大量转诊至临床诊断实验室的患者来研究这些疾病被认为是有价值的。
对总共9000例转诊进行Hb变异分析的患者进行研究，以确定印度东北部上阿萨姆邦地区的血红蛋白病和地中海贫血。
本研究采用伯乐（BIORAD）变异Hb分型系统通过高效液相色谱法（HPLC）进行。
在研究的9000例患者中，5320例患者出现异常Hb组分。在4315例患者中检测到HbE基因，其中2294例为HbE特征，其次1892例为HbE病。有114例HbEβ地中海贫血患者以及15例HbE与HbS或HbD的双重杂合子。313例患者出现β地中海贫血特征，32例为β地中海贫血纯合子。在460例患者中检测到HbS基因，其中189例为HbS特征，203例为HbS病，53例为Sβ地中海贫血，15例为SD和ES的双重杂合子。其余包括6例HbD特征、33例δβ地中海贫血、5例胎儿血红蛋白特征的遗传性持续存在以及8例患者的J链血红蛋白病。尽管怀疑有α地中海贫血的证据，但无法得到证实。
血红蛋白病和地中海贫血及其组合的高发病率是该国这一地区所特有的。
