Message to soc.jewish.gen (JewishGen Discussion Group) regarding pedigree for novel mutation, now back to 1785

There is some very satisfying news to be shared with my friends in the Jewish genealogical world. Finally, there has been a long-awaited break through to add another generation to the pedigree of the Thalassemia-ß trait in my family. The key was finding two graves in the Waldheim Cemetery in Chicago because of the help of a dedicated co-researcher in the Ostrow Mazowiecka Research Family. (see: "Shtetl-Based Jewish Genealogical Research" Avotaynu, Vol. XIV, No. 1, Spring 1998)

For four years, I have been stuck in 1826, the year my great-grandparents Jankiel WIDELEC and Sara NOWES were born in Ostrow Maz., Poland. Carriers of the trait had not been found in the progeny of known siblings of either one. But, descendants of Jankiel's sisters Fejga and Chaia had yet to be located. I had begun to despair because the key surname in this search is a rather common one and that had led me down many wrong paths since first learning of this branch during my first research trip to Poland in September 1995.

While the Ostrow Mazowiecka Research Family had indexed parts of the three Ostrover sections in Waldheim two years ago, we had been stymied in trying to complete the work. Then, earlier this year, fellow researcher Nadine Cherney Brown (California) visited the cemetery and obtained a partial map of one of the sections not covered in the original indexing. While Nadine's interests were in other graves, it was my good fortune that the map included the final resting places for children of sisters Fejga and Chaia who had married! Not only was I now on the trail to family of the two missing siblings, but with a cousin marriage, the chances that descendants carry the trait weresubstantially increased.

After a series of phone calls, I spoke to Steven in Phoenix. You can imagine my reaction when he told me that for years he carried a card which said: "Beta-thalassemia, elevated A2 Hemaglobin; do not take iron." Steven confirmed that he had inherited the trait from his father Alex. But that was just a start... More exciting news followed.

A few days later, Steven's second cousin, a physician in Toledo, Ohio, advised that Alex's first cousins Louis and George also were carriers. Thus, it is virtually certain it had been passed on to Alex, Louis and George through their fathers Hyman and Abraham - sons of a first-cousin marriage. Final confirmation will be made through DNA testing.

It was a very satisfying to share this discovery with the scientists on the project (see below), Professors Charles Scriver of McGill and Ariella Oppenheim of Hebrew University. The earliest source of my family's unique mutation of the trait was now back to 1785! Exciting stuff because - even at 1826 - this had been the most generations of beta-thal carriers ever reconstructed in a clean gene pool.

This breakthrough will make it possible to re-focus my genealogical research efforts on certain branches and, at the same time, drop a long list of family surnames which are no longer relevant to the project.

For the information of new readers of Jewishgen, the beta-thalassemia research project has three objectives:

1. To find other carriers of the specific mutation carried by my family - originally from Ostrow Maz. ("Ostrova") in the old Lomza Gubernia of Poland, and a family in Jerusalem - originally from Bobruisk in Belarus. The Jerusalem Post called it "Using a Rare Mutation to Find Relatives."

2. To identify the earliest carriers of this mutation and with the goal of building a bridge between my family and the Bobruyskers in Jerusalem. Dr. Scriver calls this "triangulating the source of the genetic trait." My family tree has the largest number of generations of carriers ever reconstructed for Thalassemia gene investigations (in a clean gene pool). Connecting the two families will add to the importance of the data. (See paper in Human Mutation 9:86-87 [1997]: "Probable Identity by Descent and Discovery of Familial Relationships by Means of a Rare Beta-Thalassemia Haplotype" Tina Martino, Feige Kaplan, Stanley Diamond, Ariella Oppenheim, and Charles R. Scriver)

3. To alert all unsuspecting Ashkenazic carriers - in and outside my family. This is the most urgent aspect because the beta-thalassemia genetic trait is not usually found unless physicians are looking for it! Carriers are often misdiagnosed as being anemic and incorrectly prescribed doses of iron. Most carriers in my family only learned they carried the trait in later life - long after having grandchildren. This late diagnosis could have had disastrous consequences.

A request: If you are, or know, an Ashkenazic carrier of the beta-thalassemia trait, please contact me immediately. According to standard medical practice, all names will be held in confidence.

Stanley M. Diamond, Montreal
"Genealogy with an extra reason" - Beta-Thalassemia Research Project