This is an illustration of a DNA Double Helix.

Jewish health issues

A genetic disorder is caused by an abnormality in a person’s DNA. These inherited traits get passed along through the cultural tradition of marrying within the same community. As such, Jewish people have passed on mutations in DNA. However, even though Jewish genetic disorders occur more regularly in Jewish people, they are not exclusive to the Jewish population. 

New genetic disorders are being discovered all the time, but there are currently 30 well researched and documented genetic disorders prominent within the Jewish population. Some are specific to the Ashkenazic community and others to the Sephardic community.

Ashkenazic genetic conditions

According to Jnetics, one in five Ashkenazic Jews is potentially the carrier* of at least one of the main Jewish genetic disorders. Genetic testing can be carried out to determine whether you are at risk of developing a particular condition or if you are a carrier. Tests may also be done in utero. You can find information about Screening and tests at jnetics.org.

The most common conditions which have a prevalence among Jews of an Ashkenazic background are the following:

Breast cancer and ovarian cancer. Breast cancer affects one in nine women in the UK, and 11% of women have a chance of developing the disease. Ovarian cancer is a disease caused by rapid growth and division of cells within one or both ovaries. Ovarian cancer affects one in 70 women in the UK, occurring most frequently in women over 60 years of age. And 5% to 10% of breast and ovarian cancers are known as familial.

Jnetics explains that there are currently two known genes that, when they contain a mutation, cause an increased susceptibility to breast and ovarian cancer. These genes are called BRCA 1 and BRCA 2. BRCA 1 and 2 genes suppress tumours or are genes which regulate cell growth. When tumour suppressor genes no longer function due to mutations, cancer may develop. It is thought that one in 40 Ashkenazic Jews carries a faulty BRCA gene. Go to Chabad.org for more information on Breast Cancer Genetics and the Jewish Woman. Additionally, the National Hereditary Breast Cancer Helpline has an online forum specifically aimed at the Jewish community.

Cystic fibrosis. Cystic fibrosis is a progressive disease which produces a thick, sticky mucus that affects the lungs and digestive system. Other issues involve weight gain, diarrhoea and recurring chest infections. It considerably shortens life span. Cystic fibrosis is one of the most common genetic disorders amongst all Caucasians—not just Jewish people. You can find more on cystic fibrosis by visiting the Cystic Fibrosis Trust website.

Familial Dysautonomia. Dysautonomia is a progressive disease that affects the body’s involuntary movements and sensory nervous system. Problems occur with the regulation of body temperature and blood pressure, swallowing, tear production, sensitivity to pain and stress response. This disease can influence lifespan. For more information, check out the FD Fact Sheet, which can be found on the Familial Dysautonomia website.

Gaucher disease. Between one in 10 to 15 Ashkenazic Jews is a carrier of this disease, which is an enzyme storage disorder. This leads to enzyme deficiency and consequently creates an increased risk of anaemia, low blood platelet counts, tendency to bruise and bleed easily and potential enlargement of the spleen or liver. The Gauchers Association website has additional information, as does the website, GaucherLife.

Haemophilia C. Sometimes referred to as Jewish Haemophilia, Rosenthal syndrome or Factor 11 deficiency, Haemophilia C was first discovered in the Ashkenazic population in the 1950s. The condition affects blood clotting, so people with this disease face the risk of excessive bleeding when they injure themselves, when they menstruate or when being treated during a medical procedure. It is possible to regulate Haemophilia C with medication. The NHS Choices website has a general overview of Haemophilia, and the Haemophilia Society has additional information.

Tay-Sachs. At 10 times the rate of the general population, one in 25 to 30 Ashkenazic Jews is a carrier of Tay-Sachs. Tay-Sachs manifests itself as a rapid degeneration of the brain and nervous system after the age of three to six months. Life expectancy for someone with Tay-Sachs is about four years old. The NHS Choices site has an overview of Tay-Sachs disease and the Cure and Action for Tay-Sachs Foundation have additional information.

Sephardic genetic conditions

There are five genetic disorders that are common among Sephardic Jews, although their frequency varies based on a person's country of origin. They all stem from single gene mutations found most often in Jews whose families have descended from North Africa, Italy, Iraq or other parts of the Middle East.

Beta thalassaemia. This is a name given to a group of inherited blood disorders affecting haemoglobin. For more information, check out the NHS Choices overview of Thalassaemia.

Familial Mediterranean Fever (FMF). Also known as Armenian disease, FMF is a hereditary inflammatory disorder which often manifests as a fever. Ninety percent of all patients have their first attacks before they are 18 years old. You can find out more from the National Genome Research Institute.

G6PD Deficiency. Also known as favism, G6PD deficiency is the most common human enzyme defect. It is particularly common in people of Mediterranean and African origin. The G6PD Deficiency Favism Association has more information.

Glycogen storage disease type III (GSD III). Also known as Cori's disease and Forbes disease, GSD III typically presents itself during infancy by showing up as hypoglycaemia and failure to thrive. The Association for Glycogen Storage Disease has additional details.

Wolman’s disease. Also known as early onset lysosomal acid lipase deficiency, Wolman's disease is caused by a deficiency of an enzyme that is necessary to break down certain lipids inside the cells. WebMD has additional information on Wolman's disease.

*According to the Jnectics site, carrier frequency is the number that describes how many people in a population are carriers—have one altered copy of a gene and one normal copy of the same gene—for a genetic disorder.

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