GENOMIC VARIATIONS AND PHENOTYPE OF SICKLE CELL ANAEMIA IN AFRICAN PATIENTS
Masters Student: Maryam Bibi Rumaney
PhD Student: Valentina Josiane Ngo Bitoungui
In sub-Saharan Africa, Sickle Cell Disease (SCD) occurs at its highest frequency: up to 270,000 affected babies born each year. Patients can present different clinical courses, varying from death in childhood to being relatively well even until old age. High Hemoglobin F (Hb F) levels are correlated with reduced morbidity and mortality in SCD, As well as co-inheritance of Alpha-thalassemia (α-thalassemia) in some SCD populations. Moreover, Red blood cell, white blood cell, and platelet measures are important diagnostic and prognostic factors and strongly modulate the severity.
1. To study SNPs associated HbF level and hematological indices in African SCD patients.
2. To study the prevalence of α-thalassemia in African SCD patients
3. To correlate these genomics variations to patients’ clinical phenotypes
For more information on Sickle Cell Disease, see the Fact Sheet.