Genetic Diseases

Jewish Heritage Screening


There are typical health disorders that have been prevalent mostly amongst the Ashkenazi Jewish population unlike other groups. The Ashkenazi includes the Jews whose ancestors resided in Eastern Europe. There are several disorders that are exclusively witness in the Ashkenazi population. As a result screenings are tests are held on a regular basis to identify and treat these disorders. Since the disorders are typically found in Jews belonging to a specific ancestral background, it is obvious that the disease is acquired genetically.

Screening is extremely essential since the diseases have negative impacts on especially women who are pregnant or a considering pregnancy. There is an array of Jewish screening categories that are performed to identify the genetic diseases that characterize the Ashkenazi population group.


There are several disorders that require doctors to screen people belonging to the Jewish ancestry. This is a routine process especially for Jewish women who are yet to conceive. The following lists such disorders amongst the Jewish population:

  • Tay-Sachs disease (TSD) – TSD is a disorder that causes neurological problems. Couples showing symptomatic conditions are screened thorough and the one who is at higher risk is screened first. The screening is normally varied out just before pregnancy so that in the course of the screening it can be ascertained whether the baby has got affected by the disease.
  • Niemann pick disease – It is a genetic disorder that creates a form of lipid or fat called sphingomyelin – this increases toxin content in the body and can even cause death in babies as young as 3 years old. The disease can affect the nervous system, the organs, central nervous system of babies born, neurological abnormalities, jaundice etc. It is a disease that is typically inherited by children from their parents that often cause death of kids as young as 3years old.
  • Mucolipidosis type IV (MLIV) – the disease causes mental and physical growth retardation in children . Under this condition the development in children stops as early as 2-3 tears post birth. It is a dangerous disorder which unable the affected children to talk or walk properly. Corneal disorder and visual impairment can also accompany the disease.
  • Gaucher disease – Gaucher is another inherited disease that characterizes the Ashkenazi group. It causes bone abnormalities, anaemia, and an enlarged liver and spleen along with many other associated health problems. The most popular treatment for different kinds of Gaucher diseases is cell transplantation. It is a disease that typically attacks infants and causes death. The disease calls for early screening of both parents.
  • Fanconi Anaemia – The disease causes bone-marrow failure and a series of blood related diseases. Along with these, it also leads to disorders like short stature, patches on the skin and kidney failure. The disease is typically found in the Ashkenazi Jewish population and the screening process includes thorough DNA testing.
  • Familial dysautonomia – The common symptomatic conditions associated with the disease are decreased sensitivity to pain and temperature, decreased/absent deep tendon reflexes, cardiovascular instability, defective lacrimation (tears), absence of papillae of the tongue (taste buds), vomiting crises and chronic pneumonias. The disease does not enjoy any absolutely treatment as yet .Patients diagnosed of this disease do not live for more than 30 years. The screening process requires analysis of the gene to detect the mutation that is causing the disease.
  • Bloom syndrome – It is a genetically transferred disease that shows the following symptoms: developmental retardation, short of stature, red patches on the skin including the face (erythema), immunodeficiency, sensitivity to sun, and a high risk of contracting cancer. A person suffering from bloom syndrome has very weak and unstable chromosomes and this leads to chromosome breakage. As a result, the longevity of a person is badly encroached upon. Gene analysis is the only way to screen the disease.
  • Canavan disease – The disease completely ruins the central nervous system. It can be traced only after a child is about 2months old. The common symptoms are inability to walk or talk, visual impairment, convulsions and sleep disorder. Carrier screening of the disease is carried out through DNA testing. The mutation aspect is identified to assess the carrier status.

Thus it can be understood that Jewish heritage screening is a unique way to identify diseases that are more prevalent amongst the Ashkenazi Jewish community. The screening is a useful way to analyze and study the trend of genetically transmitted diseases amongst this particular Jewish community and it also can offer data which can reveal the status of such disease in the Jewish community.

All the above diseases that have been discussed can be screen by means of DNA testing and gene assessment. However the fact remains that the cure to such dreadful diseases killing children every year has still not been worked out. The prime need of the hour is to improvise means to discover appropriate medication to stop such diseases in order to ensure healthy living and also to ensure safety to the Ashkenazi population group.

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