title: Knowledge insufficient: the management of haemoglobin SC disease.
abstract: Although haemoglobin SC (HbSC) accounts for 30% of sickle cell disease (SCD) in the United States and United Kingdom, evidence-based guidelines for genotype specific management are lacking. The unique pathology of HbSC disease is complex, characterized by erythrocyte dehydration, intracellular sickling and increased blood viscosity. The evaluation and treatment of patients with HbSC is largely inferred from studies of SCD consisting mostly of haemoglobin SS (HbSS) patients. These studies are underpowered to allow definitive conclusions about HbSC. We review the pathophysiology of HbSC disease, including known and potential differences between HbSS and HbSC, and highlight knowledge gaps in HbSC disease management. Clinical and translational research is needed to develop targeted treatments and to validate management recommendations for efficacy, safety and impact on quality of life for people with HbSC.
authors.affiliation: Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC, USA.|Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
authors.forename: Lydia H
authors.initials: LH
authors.lastname: Pecker
authors.affiliation: Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: Beverly A
authors.initials: BA
authors.lastname: Schaefer
authors.affiliation: Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: Lori
authors.initials: L
authors.lastname: Luchtman-Jones
mesh_terms: D019468:Disease Management; D004913:Erythrocytes, Abnormal / Q000473:pathology; D005838:Genotype; D006450:Hemoglobin SC Disease / Q000175:diagnosis / Q000628:therapy*; D006801:Humans; D011788:Quality of Life
keywords: haemoglobin SC; haemoglobin sickle C; sickle cell anaemia; sickle cell disease