Arora S, Kabra M, Maheshwari M, Shastri S, Kaur D, Deka D, Kriplani A, Menon P S
Department of Paediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.
Natl Med J India. 2001 Nov-Dec;14(6):340-2.
Haemoglobinopathies constitute a major health problem in the Indian subcontinent. In the absence of any method for achieving complete cure and treatment being expensive, prenatal diagnosis and selective termination of an affected foetus is a feasible option to decrease the disease load. We report our experience with prenatal diagnosis of haemoglobinopathies over a two-and-a-half year period in 257 pregnancies.
Amplification refractory mutation system (ARMS) was used to detect beta-thalassaemia, haemoglobin E and sickle cell mutations.
Five mutations in the beta-globin gene which are common in the Indian population were detected in 92.3% of mutant chromosomes, whereas 3.1% of chromosomes carried rare mutations followed by 0.8% haemoglobin E and 0.4% sickle cell mutations. Mutations in 3.3% chromosomes were uncharacterized. The prenatal procedure, carried out early in pregnancy, was a chorionic villus sampling in most cases. A confirmed diagnosis based on ARMS-PCR was given in 241 (93.8%) cases. In 10 cases (3.9%) linkage analysis was required to confirm the foetal status, as mutations in both parents were not identified or the chorionic villus sample carried the single identified mutation. Four families with haemoglobin E-beta thalassaemia and one family with sickle cell disease were also included. Of the study population, 91.25% of the couples had a previous child with haemoglobinopathy, whereas 8.75% of the couples came before the birth of the first affected child.
We conclude that ARMS-PCR is a highly sensitive technique for detecting mutations in the beta-globin gene and its efficacy in the prenatal diagnosis of haemoglobinopathies is proven.
血红蛋白病是印度次大陆的一个主要健康问题。由于缺乏实现完全治愈的方法且治疗费用高昂，产前诊断并选择性终止受影响胎儿是降低疾病负担的可行选择。我们报告了在两年半时间里对257例妊娠进行血红蛋白病产前诊断的经验。
采用扩增阻滞突变系统（ARMS）检测β地中海贫血、血红蛋白E和镰状细胞突变。
在92.3%的突变染色体中检测到印度人群中常见的β珠蛋白基因的五种突变，而3.1%的染色体携带罕见突变，其次是0.8%的血红蛋白E和0.4%的镰状细胞突变。3.3%染色体上的突变未得到明确鉴定。产前检查在妊娠早期进行，大多数情况下是绒毛取样。241例（93.8%）病例根据ARMS-PCR得到确诊。10例（3.9%）病例需要进行连锁分析以确认胎儿状况，原因是未鉴定出父母双方的突变或绒毛取样仅携带单一已鉴定突变。还纳入了四个血红蛋白E-β地中海贫血家族和一个镰状细胞病家族。在研究人群中，91.25%的夫妇之前有一个患血红蛋白病的孩子，而8.75%的夫妇是在第一个患病孩子出生前来就诊的。
我们得出结论，ARMS-PCR是检测β珠蛋白基因突变的高度敏感技术，其在血红蛋白病产前诊断中的有效性已得到证实。
