Document Detail

Burden of genetic disorders in India.
MedLine Citation:
PMID:  11262988     Owner:  NLM     Status:  MEDLINE    
India, like other developing countries, is facing an accelerating demographic switch to non-communicable diseases. In the cities congenital malformations and genetic disorders are important causes of morbidity and mortality. Due to the high birth rate in India a very large number of infants with genetic disorders are born every year almost half a million with malformations and 21,000 with Down syndrome. In a multi-centric study on the causes of referral for genetic counselling the top four disorders were repeated abortions (12.4%), identifiable syndromes (12.1%), chromosomal disorders (11.3%) and mental retardation (11%). In a more recent study in a private hospital the top reasons for referral were reproductive genetics (38.9%)--comprising prenatal diagnosis, recurrent abortions, infertility and Torch infections--mental retardation +/- multiple congenital anomalies (16.1%), Down syndrome (9.1%), thalassemia/haemophilia (8.8%), and muscle dystrophy/spinal muscular atrophy (8.4%). The disorders for which prenatal has been done over an 18-month-period are given. A recent study carried out in three centers (Mumbai, Delhi and Baroda) on 94,610 newborns by using a uniform proforma showed a malformation frequency of 2.03%, the commonest malformations are neural tube defects and musculo-skeletal disorders. The frequency of Down syndrome among 94,610 births was 0.87 per 1000, or 1 per 1150. Screening of 112,269 newborns for aminoacid disorders showed four disorders to be the commonest--tyrosinemia, maple syrup urine disease and phenylketonuria. Screening of cases of mental retardation for aminoacid disorders revealed four to be the commonest--hyperglycinemia, homocystinuria, alkaptonuria, and maple syrup urine disease. Metabolic studies of cases of mental retardation in AIIMS, Delhi and KEM Hospital, Mumbai, demonstrated that common disorders were those of mucopolysaccharides, lysosomes, Wilson disease, glycogen storage disease and galactosemia. It is estimated that beta- thalassemia has a frequency at birth of 1:2700, which means that about 9,000 cases of thalassemia major are born every year. Almost 5200 infants with sickle cell disease are born every year. Disorders, which deserve to be screened in the newborn period, are hypothyroidism and G-6-PD deficiency, while screening for aminoacid and other metabolic disorders could presently be restricted to symptomatic infants.
I C Verma
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  67     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-03-23     Completed Date:  2001-04-19     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  893-8     Citation Subset:  IM    
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, 110060.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / epidemiology
Congenital Hypothyroidism
Down Syndrome / epidemiology
Genetic Counseling
Genetic Diseases, Inborn / epidemiology*
Hypothyroidism / genetics
India / epidemiology
Infant Mortality
Infant, Newborn
Metabolism, Inborn Errors / epidemiology*
Prenatal Diagnosis
Erratum In:
Indian J Pediatr 2001 Jan;68(1):25

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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