NPRL3 and thalassemia: MCS-R2 is also known as hypersensitivity site 40 or HS-40, and located within intron 5 of NPRL3 (MANE transcript, NM_001077250.3) Therefore, large NPRL3 deletions or structural variants in this region of chromosome 16 can potentially disrupt both the NPRL3 gene, leading to epilepsy, as well as the α-globin genes, resulting in the α-thalassemia trait, or more severe forms if a second α-thalassemia variant is present on the other chromosome [7,11].