Sickle Cell Disease (SCD) Biochip': Towards a Simple and Reliable Way to Monitor Sickle Cell Disease
'Sickle-shaped' anemia was first clinically described in the US in 1910, and the mutated heritable sickle hemoglobin molecule was identified in 1949. The pathophysiology of SCD is a consequence of abnormal polymerization of sickle hemoglobin (HbS) and its effects on red cell membrane properties, shape, and density, and subsequent critical changes in inflammatory cell and endothelial cell function. Our goal is to understand the impact of CMA abnormalities in SCD, by interrogating a number of recognized interactions in a range of clinical phenotypes. To date, correlative studies in SCD, by us and others, have range between clinical reports, based on tests, interventions, and chart review of individuals or groups of individuals and, at the other extreme, identification of functional gene polymorphisms based on population studies. The investigators wish to augment these studies through a systematic examination of cellular membrane properties and activation status. Of hematologic disorders, SCD may be unusually susceptible to such an examination.
• Male or female ≥12 years of age at the time of consent (enrollment).
• Documentation Sickle Cell Disease, including HbSS or compound heterozygus HbSC- or HbSβ- thalassemia diagnosis as evidenced by one or more clinical features.
• Written informed consent (and assent when applicable) obtained from subject or subject's legal representative and ability for subject to comply with the requirements of the study.