Tay-Sachs carrier

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Tay-Sachs carrier

A carrier is a person who has inherited a changed (mutated) gene from one parent. Tay-Sachs carriers do not have Tay-Sachs disease, but they can pass the gene to their children.

If two people who are both Tay-Sachs carriers have children, each child has a 1-in-4 chance (25%) of having Tay-Sachs disease, a 1-in-2 chance (50%) of being a carrier, and a 1-in-4 chance (25%) of being neither a carrier nor a person with Tay-Sachs disease.

Tay-Sachs is a rare genetic disorder in which the body produces little or none of the enzyme hexosaminidase A (hex A). Without hex A, normal fatty compounds (called gangliosides) are not broken down in the body cells and they gradually accumulate and damage brain and nerve cells, making the cells unable to function properly.

A blood test can tell whether a person is a Tay-Sachs carrier.

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Author	Jeannette Curtis
Author	Caroline Rea, RN, BS, MS
Editor	Kathleen M. Ariss, MS
Editor	Susan Van Houten, RN, BSN, MBA
Associate Editor	Tracy Landauer
Associate Editor	Pat Truman, MATC
Primary Medical Reviewer	Patrice Burgess, MD - Family Medicine
Primary Medical Reviewer	Adam Husney, MD - Family Medicine
Primary Medical Reviewer	Kathleen Romito, MD - Family Medicine
Last Updated	May 25, 2007

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Last updated:	May 25, 2007
Author:	Caroline Rea, RN, BS, MS
Reviewed By:	Kathleen Romito, MD - Family Medicine
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC

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