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Haemoglobinopathies: Genetic Services in India

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Birth Defects in India

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Abstract

Genetic testing is an integral component of a birth defects service. Using the example of haemoglobinopathies, the most common single-gene disorder, this chapter presents the magnitude of these disorders and describes their consequences on patients and their families. Haemoglobinopathies impact the public health system, because of the chronicity and expensive treatment modalities. Genetic testing and screening are key prevention tools. This chapter discusses the need for development of genetic services in India by describing the magnitude of these conditions and tracks the history of development of services for haemoglobinopathies till the launch of the national guidelines on prevention and control of haemoglobinopathies in India. The relevance of these guidelines and their similarity to global guidelines have been discussed. The need for the programme to be ethical and culturally sensitive in order for it to be successful has also been deliberated. Monitoring of such a programme is important, and the available indicators for monitoring the programme have been examined.

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  1. Birth Defects and Childhood Disability Research Centre, Pune, India

    Sumedha Dharmarajan

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  1. Birth Defects and Childhood Disability Research Centre, Pune, India

    Anita Kar

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Dharmarajan, S. (2021). Haemoglobinopathies: Genetic Services in India. In: Kar, A. (eds) Birth Defects in India. Springer, Singapore. https://doi.org/10.1007/978-981-16-1554-2_11

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