This prototypic screening program also has served as a model which, with modification, has been implemented in Sardinia and other Mediterranean regions to greatly reduce the incidence of beta-thalassemia in those higher risk populations.
A significant, but smaller population, also now lives on Long Island, New York.
With the establishment of the State of Israel and the subsequent migration of Jews from many parts of the world to Israel, geneticists there began recognizing important distinctions, both in physical characteristics and in certain medical susceptibilities, between different Jewish groups.
Each individual completed a questionnaire that queried national and Iranian city-of-origin information, as well as whether they had blood relatives with any of the four disorders under consideration.
Each completed a self-addressed envelope to themselves in which most test result letters would be sent (if negative for all mutations).
Over 1500 couples have been found to be at risk, and 700 pregnancies in which the fetus was affected with TSD electively terminated (Kaback, unpublished data).
Most importantly, more than 2800 healthy unaffected offspring have been born to these at-risk couples, many of which might never previously have been conceived in such families.
Also recognizing that several of the reported conditions met criteria similar to those previously described for the TSD program efforts (most particularly, the availability of very effective interventions for at-risk couples or affected individuals), we proceeded to develop a community-based education/voluntary testing/counseling program, modeled on the Tay-Sachs prototype, for the Persian Jewish community in Greater Los Angeles.
We decided to initiate such an effort as a pilot project directed at education, counseling, and testing of 1000 individuals in this community.
Stored blood and DNA samples were recovered anonymously from approximately 200 Persian Jewish individuals who had been previously tested in community testings offered for identifying heterozygotes of HIBM or TSD.
Using the DNA from these samples, with the methods described, it was clear that these mutations were detectable and abundant in our Southern California Persian Jewish community.
A 2–5 m L saliva sample is easily obtained (compared with venapuncture with its frequently perceived unpleasantries) and 1–10 μg of DNA readily derived using the Oragene Saliva Collection Kit™ (Kanata, Ontario, Canada).