SCREENING FOR CARRIERS OF TAY-SACHS-DISEASE IN THE ULTRAORTHODOX ASHKENAZI JEWISH-COMMUNITY IN ISRAEL

A screening program for the detection of Tay-Sachs disease (TSD) carri ers in the ultra Orthodox community of Ashkenazi Jews has operated in Israel since 1986. The purpose of this program is the prevention of ma rriages of 2 heterozygotes. The screened individuals are mostly couple s in the engagement process or students in religious high schools. Two mandatory requirements guide this program. First, anonymity of the te sted individuals who are identified only by code numbers; second compl etion 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 t he heterozygote range in the initial tests. The minimal carrier freque ncy was estimated to be 1:26 or higher, which is higher then in the ge neral Jewish Ashkenazi population. This higher carrier frequency appar ently stems from the fact that most members of this community originat e from central Europe where the TSD carrier frequency was previously r eported to be the highest in the Ashkenazi population. Since the begin ning of the screening program no TSD child has been born to newlywed c ouples of this community in Israel. (C) 1993 Wiley-Liss, Inc.