Disease | Risk groups | Carrier frequency | Test |
---|---|---|---|
Cystic fibrosis | Ashkenazi Jews Caucasians | 1 in 25 to 30 | Molecular diagnostic testing*: standardized screening panel of 25 common mutations of the CFTR gene |
Tay-Sachs disease† | Ashkenazi Jews Cajuns French Canadians in Eastern Quebec | 1 in 20 to 30 | Serum hexosaminidase-A levels in men and nonpregnant women |
WBC hexosaminidase-A levels in pregnant women | |||
Molecular diagnostic testing is available in some centers. | |||
Canavan’s disease† | Ashkenazi Jews | 1 in 40 | Molecular diagnostic testing (not available in all centers) |
α- and β -thalassemia | Africans East Indians Hispanics Mediterraneans Middle Easterners Southeast Asians | 1 in 10 to 75 | If MCV is less than 80 fL, hemoglobin electrophoresis, ferritin levels, and RBC morphology. DNA analysis may be required to detect α -thalassemia carriers. |
Sickle cell anemia | Africans | 1 in 11 | Hemoglobin electrophoresis to detect hemoglobin S |