Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
Indian J Med Res. 2011 Oct;134(4):507-21.
The first case of thalassaemia, described in a non-Mediterranean person, was from India. Subsequently, cases of thalassaemia were documented in all parts of India. Centres for care of thalassaemics were started in the mid-1970s in Mumbai and Delhi, and then in other cities. The parent's associations, with the help of International Thalassemia Federation, greatly helped in improving the care of thalassaemics. Obtaining blood for transfusion was difficult, but the Indian Red Cross Society and the parent's associations played a crucial role in arranging voluntary donations of blood. Chelation with deferoxamine was used sparingly due to the high cost. The Indian physicians conducted trials with deferiprone, and the drug was first approved and marketed in India. Deferasirox is also now being administered. Studies of physical and pubertal growth documented significant retardation, suggesting that generally patients receive inadequate chelation and transfusions. Bone marrow transplantation is available at a number of centres, and cord blood stem cell storage facilities have been established. Information about mutations in different parts of India is available, and ThalInd, an Indian database has been set up. There is a need to set up preimplantation genetic diagnosis and non-invasive prenatal diagnosis. It is argued that too much emphasis should not be placed on premarital screening. The focus should be on screening pregnant women to yield immediate results in reducing the burden of this disorder. Care of thalassaemia has been included in the 12 th 5-year Plan of the Government of India. Many States now provide blood transfusions and chelation free of cost. Although inadequacies in care of thalassaemia remain, but the outlook is bright, and the stage is set for initiating a control programme in the high risk States.
首例非地中海地区的地中海贫血症病例发生在印度。此后，印度各地都有地中海贫血症的病例记录。20 世纪 70 年代中期，在孟买和德里等地开始设立地中海贫血症患者护理中心，随后在其他城市也设立了这些中心。在国际地中海贫血症联合会的帮助下，家长协会极大地帮助提高了地中海贫血症患者的护理水平。虽然获得输血比较困难，但印度红十字会和家长协会在安排自愿献血方面发挥了关键作用。由于费用高昂，很少使用去铁胺螯合疗法。印度医生进行了地拉罗司的试验，该药物首先在印度获得批准并上市。现在也在使用去铁酮。身体和青春期生长的研究记录表明存在显著的发育迟缓，表明一般患者接受的螯合和输血不足。在许多中心都可以进行骨髓移植，并且已经建立了脐带血干细胞储存设施。关于印度不同地区突变的信息已经可用，并且建立了一个印度数据库 ThalInd。需要建立植入前遗传诊断和非侵入性产前诊断。有人认为，不应该过分强调婚前筛查。重点应该是对孕妇进行筛查，以立即减少这种疾病的负担。地中海贫血症的护理已被纳入印度政府第 12 个五年计划。现在，许多州都免费提供输血和螯合治疗。尽管地中海贫血症的护理仍存在不足之处，但前景光明，已经为在高风险州启动控制计划做好了准备。
