The expression of genetic disease in India
There is an accelerating demographic switch from communicable diseases to genetic disorders.The expression of genetic disease is the combined effect of genes and the environment.There are 25 million births India annually; 8 lakhsare born with congenital malformation; 3.5 lakh swith glucose 6 phosphate deficiency (G6PD);25,000 with metabolic disorders; 20,000 withDown Syndrome, 15,000 with congenital hypothyroidism, 14,000 with thalassaemia and5,000 with sickle cell anemia. In India biochemicalscreening of 4400 cases of mental retardationrevealed that 5.75% (256 cases) were due tovarious inherited metabolic disorders (ICMR1991; Verma 2000). In IEMs single gene defects are responsible for the abnormalities in the synthesis or catabolism of proteins, carbohydratesor fats by way of defective enzymes or transport proteins, resulting in a block ofmetabolic pathway. IEMs are individually rare but are collectively common. The male to female ratio is 1:1 for autosomal dominant and autosomal recessive. It is also 1:1 for X-linked dominant if transmission is from mother to child. Age ofclinical presentation varies from child to child and the form of presentation is also variable according to age. Environmental factors may trigger the onset and severity of disease. It also depends upon the degree of accumulation oftoxic substances before the metabolic block e.g.diet, intercurrent, infections, fasting, drugs etc.
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