Kar Anita, Phadnis Supriya, Dharmarajan Sumedha, Nakade Juhi
Interdisciplinary School of Health Sciences, University of Pune, Pune, India.
Indian J Med Res. 2014 Jul;140(1):19-31.
India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients or patients with sub-optimal treatment. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities and competencies for offering genetic counselling through a public health programme have not been reported. This review article summarizes the available Indian data, which show that the country harbours the second highest number of global patients with haemophilia A. The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. This review also identifies the need to immediately initiate a national programme for haemophilia, with components of prevention, care for patients, surveillance and education and support for families.
印度缺乏预防和控制遗传疾病的国家政策。尽管血红蛋白病已受到一定关注，但关于印度其他遗传疾病的流行病学数据却很匮乏。血友病是一种遗传性单基因疾病，发病率为每10000例出生中有1例，患者表现为自发性或创伤性出血发作，未经治疗或治疗欠佳的患者会发展为慢性残疾和过早死亡。尽管印度对这种疾病的遗传基础已有深入研究，但关于患者数量、印度该疾病的发展趋势、该病的社会成本以及通过公共卫生项目提供遗传咨询的机会和能力等数据尚未见报道。这篇综述文章总结了印度现有的数据，这些数据表明该国是全球A型血友病患者数量第二多的国家。报告的A型血友病患者数量为11586例，而估计患病率可能约为50000例。本综述还指出有必要立即启动一项全国性血友病项目，该项目应包含预防、患者护理、监测、教育以及对家庭的支持等内容。
