Screening - Familial / Genetic Diseases
Familial diseases are diseases that are passed down from generation to generation. Genetic diseases are often confused with familial diseases but it must be taken into account that genetic diseases need not be hereditary but may occur as a result of spontaneous mutations. No family is free of genetic diseases.
The following is a tabulation of population groups, the associated disorders and the screening tests available. These tests are usually carried out post-natally.
Universal
a) Cystic fibrosis
- DNA analysis of a sample of blood or of cells from the inside of the cheek
Ashkenazi Jews
a) Canavan disease
- DNA analysis of a sample of blood or of cells from the inside of the cheek
b) Familial dysautonomia
(Hereditary dysfunction of the autonomic nervous system)
- DNA analysis of a sample of blood or of cells from the inside of the cheek
c) Tay-Sachs disease
- Blood tests to measure the enzyme that is deficient in this disorder (hexosaminidase A).
- Possibly DNA analysis
Blacks
a) Sickle cell anemia-
- Blood tests to check for abnormal hemoglobin
Cajuns
a) Tay-Sachs disease-
- Blood tests to measure the enzyme that is deficient in this disorder (hexosaminidase A)
- Possibly DNA analysis
Mediterranean people
a) beta -Thalassemia-
- Blood tests to measure the average size of red blood cells (mean corpuscular volume)
Southeast Asians, Cambodians, Chinese, Filipinos, Laotians, and Vietnamese
a) alpha -Thalassemia-
- If average size is small, blood tests to check for abnormal hemoglobin