TESTING GENETIC DISPOSITIONS FOR ASHKENAZI JEWS

Different ethnic groups tend to suffer from different types of hereditary diseases, with some being more common, and some less common than others. Hereditary diseases such as hemophilia (1 in 12), tay-sachs (1 in 25), bloom syndrome (1 in 100), canavan (1 in 60), congenial deafness (1 in 25), cystic fibrosis (1 in 25), gaucher disease (1 in 7), and Parkinson’s (1 in 42) to name a few, were recognized early on in Jewish history.  All of these diseases can be detected in one or both parents before trying to get pregnant with some simple and inexpensive blood tests done conveniently in a lab near you. Following are some of the most common diseases.

Bloom syndrome, also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature and predisposition to the development of cancer.

Haemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation disorder after von Willebrand’s disease and haemophilia A and B. In the USA it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.

Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain’s nerve cells, eventually leading to the premature death of the cells.

Familial dysautonomia , sometimes called Riley–Day syndrome and hereditary sensory and autonomic neuropathy type III (HSAN-III) — is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility.

Gaucher’s disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher’s disease is the most common of the lysosomal storage diseases. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia and low blood.

Today many women are having trouble getting pregnant and are choosing in vitro fertilization. This is a long and very expensive process most of the time, where many couples can only afford a “one time shot” at getting pregnant. Finding out if you and or your spouse are predisposed to one or more of these diseases are often very helpful in determining your plan of action to becoming a new parent.  Simple testing for genetic disposition can  alleviate some of the concern being predisposed to specific and most common syndromes affecting to Ashkenazi ethnic group.

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