Jewish genetic disease

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Jewish genetic disease2016-12-06T07:05:17+00:00

Jewish genetic disease

Jewish genetic diseases image from New Medical Terms

Jewish genetic diseases


Definition A generic term for a genetic disorder which is more common in Jews, due to high rates of inbreeding. Most are autosomal recessive and first appear in infancy.

The American College of Medical Genetics recommends that Jews undergo routine preconceptual or prenatal carrier screening for 9 diseases (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anaemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A and Tay-Sachs disease) which are common in Jews of eastern European (Ashkenazi) descent. 

Jewish (Ashkenazim) Genetic Diseases

Disease                                     Incidence          Carrier rate

Gaucher disease                        1/900                1/15

Cystic fibrosis                         1/2,800                1/29

Tay-Sachs disease                  1/3,000               1/30

Familial dysautonomia         1/3,600                1/32

Canavan disease                     1/10,000              1/50

Fanconi anemia group C       1/32,000             1/89

Niemann-Pick, type A           1/32,000              1/90

Bloom syndrome                    1/40,000            1/100

Mucolipidosis IV                    1/63,000              1/127  


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