Beta Thalassemia

A Jewish Hereditary Genetic Research Project


Stanley Diamond

Bobruysk researchers, I need your help in a genetic related genealogical research project.

Certain families from Bobruysk share the identical novel mutation of the Beta-Thalassemia genetic trait carried by my family (originally from Ostrow Maz., 500 km west of Bobruysk.)

The known Bobruysk families are: ELTERMAN/ALTERMAN, MANCHICK, and KRAVETSKY. Of course, there could be others which have not yet been identified.

I am looking for anyone related to these families because knowing about the beta-thalassemia genetic trait may be vital to them and perhaps people you know.

For years, Beta-Thalassemia (also known as Cooley’s anemia or Mediterranean anemia), was thought to affect only Greek, Italian, Asian, and some Sephardic Jewish families. By 1993, four Ashkenazic families had been identified as carriers. Through my outreach, I have now been able to document fifteen families with the the trait and the future generations of unsuspecting members of these families could be at risk for the fatal disease. Here’s why:

The offspring of two carriers have a one in four chance of inheriting the disease. As I have done in my family, I have urged the other families to reach out to every branch they can find to warn them that the mild chronic anemia could well be something else.

In 1993, Dr. Ariella Oppenheim of Hebrew University - Hadassah Hospital, Jerusalem, and Dr. Charles Scriver of McGill University - Montreal Children’s Hospital Medical Research Institute, independently discovered that my family and a family in Jerusalem carry the same novel mutation of the beta-thalassemia genetic trait. As a result, I embarked on a scientific and humanitarian project that invites the participation of genealogists around the world.

The first scientific paper related to the project was published in January 1997 in the medical journal “Human Mutation” (Vol. IX, No. 1).

In Israel, where there is mass pre-natal screening for beta-thalassemia,only seven Ashkenazic families have been identified as carriers.) This rarity creates a potentially dangerous scenario for Ashkenazic families with unsuspecting carriers. The thalassemia genetic trait (thalassemia minor) does not affect carriers themselves. However, it can be a ticking time bomb for their descendants because the trait is typically diagnosed as mild chronic anemia. Thus, Ashkenazic Jews and their physicians, particularly in the Diaspora, are unlikely to go to great efforts to try to identify the cause of the anemia.

With the growing rate of intermarriage between Jews and non-Jews, as well as the increased frequency of Ashkenazic-Sephardic marriages, there is an ever-increasing risk of this devastating disease occurring in an unaware Ashkenazic population.

The first step in identifying carriers is to ask the physician about the individual’s MCV (Mean Corpuscular Volume) which is normally recorded in a standard blood test. If it is 78 or less, there should be a further evaluation of the hemoglobin A2.

While I have not found other carriers of my family’s specific mutation so far, outreach has turned up a number of other Diaspora Ashkenazic families carrying the trait. A few are already starting programs to alert their extended families about the potential dangers to future generations. These families were found through JewishGen posts and articles in the general and Jewish press and Jewish Genealogical Society newsletters.

On-site research in Poland and the cooperation of the Polish State Archives and key Civil Records Offices enabled me to document sixty additional families who may be at risk. With descendants of so many families to be traced and contacted, my task, already immense, has now become almost unmanageable. I need help from my fellow genealogists, their friends, relatives, and physicians - anyone who might have knowledge of a carrier.

Here’s how you can help:

  1. Review the names in below for possible matches with your family, friends, and acquaintances. It could explain the mild chronic anemia which until now may have been ignored, discounted, or worse, incorrectly treated.

  2. If you are, or know, an Ashkenazic carrier of beta-thalassemia, please contact me immediately. As per standard medical practice, all names will be held in confidence.

  3. Contact the expert(s) on Jewish genetic diseases in your area. This will usually be the chief hematologist at a general hospital serving a large Jewish patient base and/or a hematologist associated with a local children’s hospital. Genetic counsellors may also know possible contacts. The question to ask is, “Have you, or anyone you know, ever identified Ashkenazic carriers of the beta-thalassemia trait?”

    If the answer is yes, please let me know the name of the attending physician. I will forward the full background on the project, which could then be given to the carrier. The next step would be for the carrier to contact me.

  4. Send a copy of this request to your physician(s); ask that it be mentioned to associates, particularly in the fields of hematology, genetics, and pediatrics. This step is necessary since information about a carrier may not always come to the attention of the local expert.

If you want to help or need further information, please contact me via email (, telephone (514-484-0100), or fax (514-484-7306).

The Bobruysk families who may be carriers of my family’s novel mutation of the Beta-Thalassemia genetic trait are:

For further information on this research, please check out my website at the address noted below:

Stanley M. Diamond, Montreal
"Genealogy with an extra reason" ... Beta-Thalassemia Research Project
Tel: (514) 484-0100
Fax: (514) 484-7306

Content last updated Monday, May 11, 2015 at 08:24 PM Mountain Daylight Time