Table 1. Carrier rate from the total of 741 donor candidates studied.
AUTOSOMAL RECESSIVE DISEASES Gene N° Carriers Carrier Rate
Congenital adrenal hyperplasia CYP21A2 85 11.5%
Cystic fibrosis CFTR 52 7.0%
Autosomal recessive deafness GJB2/GJB6 GJB2 (GJB6) 35 4.7%
Alpha-thalassemia HBA1 / HBA2 25 3.4%
Spinal muscular atrophy SMN1 11 1.5%
Hemoglobinopathies HBB 8 1.1%