Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.

摘要: Hemoglobin genotype and HBB haplotype are established genetic factors that modify the clinical phenotype in sickle cell disease (SCD). Current methods of establishing these two cumbersome and/or prone to errors. The throughput capability next generation sequencing (NGS) makes it ideal for simultaneous interrogation many genes interest SCD. This study was designed confirm diagnosis patients with HbSS Sβ-thalassemia, identify any s-thal mutations simultaneously determine sS haplotype. Illumina Ampliseq custom DNA panel used samples. Haplotyping based on alleles five haplotype-specific SNPs. studied included 159 68 Sβ-thal patients, previously diagnosed using high performance liquid chromatography (HPLC). There considerable discordance between HPLC NGS results, giving a false +ve rate 20.5% sensitivity 79% identification Sβthal. Arab/India found 81.5% βS chromosomes, while most common, 13 β-thal detected, were IVS-1 del25 IVS-II-1 (G>A). is very versatile can be deployed screen multiple gene loci modifying polymorphisms, afford personalized, evidence-based counselling early intervention.