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 …

Studies of genetic variants and their associations with disease outcomes using recent
molecular technology advances and the broad variety of statistical methodologies available …

Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes,
represent the commonest monogenic diseases in the world. Although their pathogenicity is …

Purpose of the study Fetal hemoglobin (HbF) is a modifier of the clinical and hematologic
phenotype of sickle cell anemia (SCA). Three quantitative trait loci (QTL) modulate HbF …

The clinical severity of sickle cell disease (SCD) is strongly influenced by the level of fetal
haemoglobin (HbF) persistent in each patient. Three major HbF loci (BCL11A, HBS1L-MYB …

Several of the complications observed in sickle cell disease (SCD) are influenced by
variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil …

More than 50 years ago patients with sickle cell anemia surviving to adulthood with few
acute painful events were deemed “mild” or “relatively benign.” 1, 2 Their clinical course …

Introduction Acute pain episodes, also known as vaso-occlusive crises (VOC), are a major
symptom of sickle cell disease (SCD) and lead to frequent hospitalizations. The diagnosis of …

Purpose Neurocognitive impairment is a common and debilitating complication of sickle cell
disease (SCD) resulting from a combination of biological and environmental factors. The …

Background Scientists have speculated genetic variants may contribute to an individual's
unique pain experience. Although research exists regarding the relationship between single …