All About Genetic Diseases That Strike Sephardic Jews

Specialized Testing Is Linked to Country of Origin

By Forward Staff

Published August 09, 2014.

The Forward Staff has compiled a guide to the most common heritable “Sephardic Jewish diseases,” with information on symptoms, causes and carrier rates for each, as well as the geographic regions from which affected Jewish populations originate.

These diseases are mostly caused by recessive genetic mutations, meaning that mutations must be present in both copies (alleles) of the gene for the associated condition to be expressed. When both parents carry a given mutation, each child of theirs has a 25% of developing the associated disease. This is why couples with at least one partner of Sephardic or Mizrahi origin are encouraged to undergo screening if they plan to have children.

Unlike Ashkenazi Jews, who share ethnic commonalities regardless of country of origin,” Sephardi” is a broad label. Subgroups like Moroccan Jews or Iranian Jews have distinct characteristics, making universal screening panels for inherited genetic diseases for all Sephardic and Mizrahi Jews impractical. Therefore, it’s best to discuss one’s family heritage with a doctor or genetic counselor in order to receive screening recommendations.

The Sephardic Health Organization for Referral and Education recommends that non-Ashkenazi Jewish couples get tested for the 19 most common Ashkenazi Jewish diseases as well — because some of the diseases, such as cystic fibrosis and spinal muscular atrophy, can also be found among non-Ashkenazi populations. Screenings usually require blood samples.

Data on the estimated carrier frequency and the affected Jewish population are courtesy of the Jewish Genetic Disease Consortium in New York.

Dr. Adele Schneider, the medical director of the Einstein Victor Center for the Prevention of Jewish Genetic Diseases in Philadelphia, Pennsylvania, has contributed to this section.

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