Carrier screening is now available for several conditions that affect patients of Eastern European Jewish descent (Ashkenazi Jewish). About 95% of the Jewish population in North America is Ashkenazi Jewish.
- Tay Sachs disease -
Severe progressive neuro-degenerative condition, usually fatal by 5 years. - Cystic fibrosis -
Characterized by a chronic lung condition associated with gastrointestinal mal absorption. - Canaan disease - Severe neuro-degenerative condition. This condition is usually fatal by 3 to 5 years of age.
- Familial dysautonomia -
Neurological condition characterized by decreased pain and temperature sensation, absence of overflow tearing, pernicious vomiting, and spine curvature. - Niemann-Pick disease (type A) -
Associated with failure to thrive, hepatosplenomegaly, and progressive mental and physical deterioration. This condition usually is fatal by 4 years of age. - Fanconi anemia (group C) -
Variable condition recognized in early childhood with severe anemia, failure to thrive and developmental delay. There are occasional heart, limb or kidney malformations. - Bloom syndrome -
Characterized by prenatal growth restriction and butterfly rash in the mid-face region. Occasionally associated with mental deficiency. Significantly increased risk for various malignancies (leukemia, gastrointestinal cancers, and others). - Gaucher disease -
Variable condition presenting in childhood or adulthood in the majority of affected individuals. Characterized by hepatosplenomegaly, brittle bones, and restricted movements of the joints.
