More recently, TLA has also been applied to methylmalonic acidaemia (MMACHC), α- and β-thalassaemia (HBA, HBB), phenylketonuria (PAH), polycystic kidney disease (PKHD1), and autosomal recessive non-syndromic hearing loss (GJB2)[110]. This evidence concerns the gene GJB2 and pulmonary arterial hypertension.