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Monogenetic Diseases

Sickle Cell Anaemia

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.

Aims:

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.