Genotyping a thalassemia point mutation by probe-gated silica nanoparticles

β-thalassemia is an inherited blood disorder that can lead to anemia. The causative reason for the disease is known to be mutation(s) in hemoglobin (HBB) gene that produces one of the subunits, called beta hemoglobin. Mutations in the HBB gene can reduce or abolish the production of beta-hemoglobin leading to abnormal hemoglobin protein structure and thus reduced oxygen carrying capacity. Therefore, low number of red blood cells in the blood causes the person's ability to produce hemoglobin and associated anemia complications. The development of simple, reliable, and rapid approaches for molecular detection of common mutations is important for prevention and early diagnosis of genetic diseases, including Thalassemia. Oligonucleotide-gated mesoporous nanoparticles-based analysis is a new platform for mutation detection that has the advantages of sensitivity, rapidity, accuracy, and convenience. A specific mutation in β-Thalassemia (IVS-110), as one of the most prevalent inherited diseases in several countries, was used as model mutation sequence in this study.