Genetic modifiers of severity in sickle cell disease.

Genetic modifiers of severity in sickle cell disease. Clin Hemorheol Microcirc. 2018;68(2-3):147-164 Authors: Chang AK, Ginter Summarell CC, Birdie PT, Sheehan VA Abstract Sickle cell disease (SCD) is one of the most common single disease disorders world-wide. It is remarkable for its clinical heterogeneity, even among individuals with identical genotypes. Some individuals experience morbidity and mortality in early childhood, while others have a relatively mild course, and normal or near normal life expectancy. Many clinical complications are associated with SCD; most notably frequent pain episodes, stroke, acute chest syndrome, avascular necrosis, nephropathy, retinopathy and pulmonary hypertension. While the effects of higher fetal hemoglobin (HbF) levels, UGTA1A polymorphisms, alpha-thalassemia and G6PD deficiency on SCD has been extensively studied, these variables do not explain all of the clinical heterogeneity of SCD. It is not known why some patients develop certain complications, and it is difficult to predict which complications a particular patient will experience. Much work has been done to identify genetic variants associated with these disease complications; many associations remain unvalidated. As the field continues to move beyond small sample collections and candidate gene approaches into whole genome sequencing and merging of samples from all over the world, we will identify more genetic variants associated with de...
Source: Clinical Hemorheology and Microcirculation - Category: Hematology Authors: Tags: Clin Hemorheol Microcirc Source Type: research