Genetic Diseases That Affect Sephardic Jews

Specialized Testing Is Linked to Country of Origin

By Forward Staff

Published August 06, 2013, issue of August 16, 2013.
  • Print
  • Share Share

Sephardic and Mizrahi Disorders

Routine screening for Sephardic and Mizrahi Jews includes carrier screening for cystic fibrosis and spinal muscular atrophy as well as for hemoglobinopathies (such as beta thalassemia — see below). The following list includes a selection of some conditions that are more common in different Sephardic and Mizrahi populations. More specialized screening will be dependent on the individual’s country of origin and the availability of testing.

• Beta Thalassemia
Beta thalassemia falls into the category of hemoglobinopathies, or hemoglobin diseases. Red blood cells rely on the protein hemoglobin to transport oxygen from the lungs to the rest of the body. When genetic mutations disrupt the production of hemoglobin, red blood cells aren’t produced appropriately, leading to anemia. Sickle cell disease, alpha thalassemia, and beta thalassemia are all hemoglobinopathies. Globally, beta thalassemia is the most common inherited single gene disorder. This disorder covers a spectrum of anemias, ranging in severity from mild (intermedia) to severe (thalassemia major or Cooley’s anemia). Beta thalassemia is most frequently seen in humid climates with a high incidence of malaria, such as Africa, the Mediterranean, the Middle East and Asia. Carriers are thought to have some resistance to malaria. For Sephardic Jews, the carrier rate varies by country of origin, for instance, 1 in 30 for Greeks and Italians and 1 in 10 for Iranians.

Click to see the rest of the section, Click for more stories about genetics.

• Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is an episodic condition that affects 1 in 200 Sephardic Jews. About 1 in 3 to 1 in 7 are carriers. A mutation of the MEFV gene is the culprit, hindering the body’s ability to control inflammation when it occurs. A result of the condition is amyloidosis, or potentially dangerous buildup of protein in organs and tissues.

• G6PD Deficiency
G6PD deficiency is the most common known human enzyme deficiency, affecting 400 million people worldwide, most frequently in areas with a high incidence of malaria, such as Africa, the Mediterranean and Southeast Asia. About 65 percent of male Kurdish Jews have the disease. Carriers are thought to have some resistance to malaria. Because the genetic mutations are sex-linked, most cases occur in males. Females who carry one mutation are generally not affected because the normal copy of the gene on their second X chromosome compensates for the defect. Affected males can pass the mutation to a daughter, but it is unlikely that she would have symptoms, for this reason.

The disease is caused by insufficient glucose-6-phosphate dehydrogenase (G6PD), an enzyme found in red blood cells, causing the cells to break down faster than they can be replenished. This results in hemolytic anemia, which can vary in severity from lifelong anemia to rare bouts to no symptoms. Anemia in those who are G6PD deficient can also be induced by certain oxidative drugs, infections, severe stress or ingestion of fava beans. The most severe form of the disorder is called favism, after the legume.

• Glycogen Storage Disease, Type III
Glycogen storage disease type III (GSD III) is caused by an enzyme deficiency that prevents liver and/or muscle tissue from completely breaking down stored glycogen into glucose, which the body metabolizes. Glycogen is a carbohydrate that serves as one of the primary fuel reserves for the body’s energy needs. Stores of glycogen power the body during times of fasting and exercise. The progressive buildup of glycogen caused by the enzyme deficiency can cause muscle wasting and organ failure. In the Sephardic community, GSD III is primarily found among Jews of North African descent. About 1 in 5,400 North African Jews has this disease and 1 in 35 is a carrier.

Chana Wiesman, a genetic counselor at Montefiore Medical Center and The Program for Jewish Genetic Health of Yeshiva University and Albert Einstein College of Medicine, contributed to this list.


The Jewish Daily Forward welcomes reader comments in order to promote thoughtful discussion on issues of importance to the Jewish community. In the interest of maintaining a civil forum, The Jewish Daily Forwardrequires that all commenters be appropriately respectful toward our writers, other commenters and the subjects of the articles. Vigorous debate and reasoned critique are welcome; name-calling and personal invective are not. While we generally do not seek to edit or actively moderate comments, our spam filter prevents most links and certain key words from being posted and The Jewish Daily Forward reserves the right to remove comments for any reason.





Find us on Facebook!
  • This is what the rockets over Israel and Gaza look like from space:
  • "Israel should not let captives languish or corpses rot. It should do everything in its power to recover people and bodies. Jewish law places a premium on pidyon shvuyim, “the redemption of captives,” and proper burial. But not when the price will lead to more death and more kidnappings." Do you agree?
  • Slate.com's Allison Benedikt wrote that Taglit-Birthright Israel is partly to blame for the death of American IDF volunteer Max Steinberg. This is why she's wrong:
  • Israeli soldiers want you to buy them socks. And snacks. And backpacks. And underwear. And pizza. So claim dozens of fundraising campaigns launched by American Jewish and Israeli charities since the start of the current wave of crisis and conflict in Israel and Gaza.
  • The sign reads: “Dogs are allowed in this establishment but Zionists are not under any circumstances.”
  • Is Twitter Israel's new worst enemy?
  • More than 50 former Israeli soldiers have refused to serve in the current ground operation in #Gaza.
  • "My wife and I are both half-Jewish. Both of us very much felt and feel American first and Jewish second. We are currently debating whether we should send our daughter to a Jewish pre-K and kindergarten program or to a public one. Pros? Give her a Jewish community and identity that she could build on throughout her life. Cons? Costs a lot of money; She will enter school with the idea that being Jewish makes her different somehow instead of something that you do after or in addition to regular school. Maybe a Shabbat sing-along would be enough?"
  • Undeterred by the conflict, 24 Jews participated in the first ever Jewish National Fund— JDate singles trip to Israel. Translation: Jews age 30 to 45 travelled to Israel to get it on in the sun, with a side of hummus.
  • "It pains and shocks me to say this, but here goes: My father was right all along. He always told me, as I spouted liberal talking points at the Shabbos table and challenged his hawkish views on Israel and the Palestinians to his unending chagrin, that I would one day change my tune." Have you had a similar experience?
  • "'What’s this, mommy?' she asked, while pulling at the purple sleeve to unwrap this mysterious little gift mom keeps hidden in the inside pocket of her bag. Oh boy, how do I answer?"
  • "I fear that we are witnessing the end of politics in the Israeli-Palestinian conflict. I see no possibility for resolution right now. I look into the future and see only a void." What do you think?
  • Not a gazillionaire? Take the "poor door."
  • "We will do what we must to protect our people. We have that right. We are not less deserving of life and quiet than anyone else. No more apologies."
  • "Woody Allen should have quit while he was ahead." Ezra Glinter's review of "Magic in the Moonlight": http://jd.fo/f4Q1Q
  • from-cache

Would you like to receive updates about new stories?




















We will not share your e-mail address or other personal information.

Already subscribed? Manage your subscription.