LDLR and Hypercholesterolemia: For example, Alu-mediated deletion by homologous recombination of the α-globin gene was implicated in α-thalassemia [31], whereas a duplication of a 14 kb sequence encompassing exons 2 through exon 8 in the LDL receptor gene produced a 50,000 Daltons larger LDL receptor in a patient suffering hypercholesterolaemia [32].