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Data |
Prevalence of Inborn Errors of Metabolism in Neonates
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In the present study, 2.9% prevalence (of the total 70,590 samples analysed, 2053 cases were found positive) of IEM was observed. Of these positive cases, 13% (279 of 2053 positive cases) cases belonged to eastern zone, 24% (493 of 2053 positive cases) were from northern zone, 38% (793 of 2053 positive cases) were from southern zone and 23% (488 of 2053 positive cases) were from western zone. Among these, the highest prevalent disorder was found to be G6PD deficiency, with 1.3% (923 positive of 70,590) cases reported followed by haemoglobinopathies, 0.5% (360 positive of 70,590) and congenital hyperplasia with 0.34% (239 positive of 70,590) cases of the total newborns, screened. Conclusion: The newborn screening is expanding its wings throughout the world. The outcome of present data offers a unique opportunity to explore the birth prevalence of inborn metabolic disorders in the current population. Understanding the birth prevalence of these disorders in India from its various zones will definitely improve the short term and long term medical needs faced by affected communities
https://jcdr.net/articles/PDF/11515/30035_CE[Ra1]_F(SL)_PF1(AJ_SL)_PFA(AJ_SL)_PB(AJ_SL)_PN(SL).pdf |
Burdened by rare diseases
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According to the World Health Organisation (WHO) there are over 5,000 diseases classified as rarecaused due to genetic anomalies. Doctors say that out of these 5,000 rare diseases, more than 500 are metabolic, out of which 50 are currently accepted as screenable disorders across the world. In India, as many as 25,000 babies born with rare metabolic disorders every year. The numbers might not be high, but when it comes to the economic, social and psychological burden on the families of such children and the nation, these diseases need the immediate attention of the government because they tend to stay with the patient lifelong
Source.http://www.afternoondc.in/Post.aspx?id=108962&catname=/special-report/burdened-by-rare-diseases/article_108962
Note.This information complied from the website mentioned above |
The expression of genetic disease in India
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Nearly 5-15 per cent of newborns are sick due to metabolic diseases.
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Indian Scenario
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1 in every 1,000 newborns was observed .....
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Greatest Burden
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INDIAN CONTEXT
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Importance of screening in India,
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Frequency of Genetic Disorders
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Staggering
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Neonatal thyroid dysfunction-lessons from Indian experience
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Newborn Screening for Congenital Hypothyroidism in India: Lets Just Do It!
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Current and future perspective of newborn screening: an Indian scenario
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Newborn screening: Need of the hour
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Universal Implementation of Newborn Screening in India
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