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Autosomal Recessive Genetic Disorders

Who is at high risk for Tay-Sachs Disease?

A Answers (1)

  • Tay-Sachs disease (TSD) is extremely rare. TSD is a recessive genetic condition, which means that the mutation must be inherited from both parents for the disease to manifest. People who have inherited the mutation from only one parent do not have TSD, but are called "carriers" because they may pass the disease to their children. If one parent is a carrier, then each child has a 50% chance of inheriting one mutation and also of being a carrier of TSD. If both parents are carriers, each child has a 50% chance of inheriting one mutation. The chance of inheriting no mutations is 25%, and the chance of inheriting two mutations is 25%.

    Worldwide, it is estimated that the carrier frequency of the HEXA mutation is one in 300. Although anyone can have these mutations, TSD may be more common in certain populations. Historically, mutations in the HEXA gene were very common among those of Ashkenazi Jewish descent. Prior to 1970, it was estimated that 1 in 30 Ashkenazi Jewish individuals carried one mutated HEXA gene, and 50-70 infants with TSD were born each year to Ashkenazi Jewish families.

    Other populations may also have an increased risk for TSD. Prior to the introduction of genetic screening, French Canadian or Cajun populations had carrier frequencies similar to Ashkenazi Jewish populations (about 1 in 30).

    The availability of genetic screening and counseling has significantly decreased the carrier frequency in populations that historically had high incidences of TSD.

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What is Tay-Sachs disease (TSD)?