Ms Nabeelah Samie

Masters Student

Ms Samie conducted her research on the topic ‘Investigating Variants Associated with Quantitative Red Blood Cell Indices from TOPMed Predictions in African Sickle Cell Disease Populations’. She investigated 13 variants previously found to be associated with haematological indices in a TOPMed Project. My investigation found five statistically significant associations across three genomic regions (HBB, HBA1/2 and G6PD) to haematological indices in African individuals living with SCD. Eight of the 13 variants displayed a higher MAF in individuals with SCD when compared to other populations. The main method of targeted genotyping used was TaqMan Assay, with Sanger sequencing done on a subset of samples to validate the result. The associations were determined using logistic regression analysis.