Heterozygote Screening in Tay-sachs Disease

In 1887, Bernard Sachs reported on the clinical features diagnostic signs and symptoms and pathology of a patient with a condition that would someday bear his name(l). It was several decades later before it was discovered that these patients suffered from a recessive genetic trait resulting in the accumulation of a specific ganglioside, GM2, due to the deficiency of the lysosomal enzyme hexosaminidase A(2). Heterozygotes for this recessive gene are clinically unaffected but have reduced concentration of this enzyme in serum and circulating leukocytes(3), as well as the other tissues of the body. As homozygotes are afflicted with a progressive uniformly fatal, untreatable disease, a strong rationale exists for ' heterozygote screening.