The diversity of genetic factors and symptom variability complicates translational and clinical studies related to sickle cell disease (SCD). As an autosomal recessive disorder, mutations in the
ß-globin gene affect protein structure and/or expression, thereby contributing to disease severity and complexity. The most severe form of SCD occurs when both ß-globin alleles of the hemoglobin protein have a single amino acid substitution (HbSS). Inheriting one mutant ß-S allele with other ß-globin mutations (e.g., ß-thalassemia alleles) leads to varying severity, whereas some variants, such as persistent fetal hemoglobulin (HbF) expression, can alleviate disease severity. Such confounding variables often make research study designs and data interpretation difficult.
Systemically, the central nervous system, which relies heavily on highly oxygenated blood, is vulnerable to complications both in children and adults—resulting in the need for constant
monitoring and frequent red blood cell transfusions.(1) Understanding how sickling and hemolysis of red blood cells drive disease features such as vaso-occlusion, vascular damage, and
inflammation has been a key focus in the field.
In this eBook, we rethink the well-known challenges for advancing SCD research by providing innovative solutions to patient reach, recruitment, retention, and biospecimen collection. You’ll learn how Sanguine’s patient-led approach provides the pharmaceutical industry with an enhanced ability to recruit study participants and collect biospecimens and data through a mobile workforce across the United States. Our leading advantage – a mobile direct-to-patient approach – brings research participation into the patient’s home with a primary focus on establishing trusting
relationships.