The five most frequent autosomal recessive diseases (gene associated,number, and [percentage] of carriers) were GJB2-related DFNB1 nonsyndromic hearingloss (GJB2, 69 [5.3%]); CF (CFTR, 45, [3.5%]);α-thalassemia, (HBA1/HBA2, 40, [3.1%]); phenylketonuria(PAH, 39 [3.0%]); and spinal muscular atrophy(SMN1, 37 [2.8%]) (Abulíet al., 2016). The gene discussed is HBA2; the disease is proximal spinal muscular atrophy.