Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel
Article first published online: 3 JUN 2005
Copyright © 1993 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 47, Issue 2, pages 213–215, 15 August 1993
How to Cite
Broide, E., Zeigler, M., Eckstein, J. and Bach, G. (1993), Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am. J. Med. Genet., 47: 213–215. doi: 10.1002/ajmg.1320470214
- Issue published online: 3 JUN 2005
- Article first published online: 3 JUN 2005
- Manuscript Revised: 23 MAR 1993
- Manuscript Received: 8 JUL 1992
- Hex A activity;
- prenatal diagnosis;
A screening program for the detection of Tay-Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi Jews has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engagement process or students in religious high schools. Two mandatory requirements guide this program. First, anonymity of the tested individuals who are identified only by code numbers; second completion of the test results of couples in the engagement process within a few days. The screening program is performed by the determination of hexosaminidase A (Hex A) activity in serum which is repeated in serum and leukocyte extracts in couples where both partners were found in the heterozygote range in the initial tests.
The minimal carrier frequency was estimated to be 1:26 or higher, which is higher then in the general Jewish Ashkenazi population. This higher carrier frequency apparently stems from the fact that most members of this community originate from central Europe where the TSD carrier frequency was previously reported to be the highest in the Ashkenazi population. Since the beginning of the screening program no TSD child has been born to newlywed couples of this community in Israel. © 1993 Wiley-Liss, Inc.