DiseaseRisk groupsCarrier frequencyTest
Cystic fibrosisAshkenazi Jews
Caucasians
1 in 25 to 30Molecular 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 30Serum 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 Jews1 in 40Molecular diagnostic testing (not available in all centers)
α- and β -thalassemiaAfricans
East Indians
Hispanics
Mediterraneans
Middle Easterners
Southeast Asians
1 in 10 to 75If 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 anemiaAfricans1 in 11Hemoglobin electrophoresis to detect hemoglobin S