OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
Authors: Parth S Shah; Nidhi D Shah; Hari Shankar P Ray; Nikunj B Khatri; Ketan K Vaghasia; Rutvik J Raval; Sandip C Shah; Mandava V Rao Journal: Appl Clin Genet Date: 2017-05-11
Authors: L C Nacul; A Stewart; C Alberg; S Chowdhury; M W Darlison; C Grollman; A Hall; B Modell; S Moorthie; G S Sagoo; H Burton Journal: J Public Health (Oxf) Date: 2013-05-10 Impact factor: 2.341