Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Sickle cell disease (SCD) is the most severe monogenic hemoglobinopathy caused by a
single genetic mutation that leads to repeated polymerization and depolymerization of …

We report three novel deletions involving the Multispecies Conserved Sequences (MCS)
R2, also known as the Major Regulative Element (MRE), in patients showing the α …

Sickle cell nephropathy (SCN) is a common complication of sickle cell disease (SCD) that
significantly contributes to morbidity and mortality. In addition to clinical and life-style factors …

End-organ dysfunction results in substantial morbidity and mortality in sickle cell disease
(SCD). 1-3 Chronic kidney disease (CKD), defined as kidney damage or decreased kidney …

Sickle cell disease (SCD) is a prevalent condition, particularly in the countries of sub-
Saharan Africa, where the presence of specific genes associated with Malaria contributes to …

Objectives Our study evaluated the association of the polymorphism rs724016 in the
ZBTB38 gene, previously associated with height in other populations, with predictors of …

Biological sex is important. Male sex is associated with worse outcomes in most measures,
including cerebrovascular disease, hospital admissions, and blood transfusions, but not …

Haemoglobin S (HbS), α-thalassaemia, and glucose-6-phosphate deficiency (G6PD)
deficiency are three distinct erythrocyte genetic mutations that share a global distribution that …

Results: The majority of the participants were of ages 18 years to 20 years, mostly students
with SS genotype. A high proportion of partici-pants (52.0%) experienced a mild level of …