Work

Knowledge insufficient: the management of haemoglobin SC disease

Year: 2016

Type: review

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.

Source: British Journal of Haematology

DOI: 10.1111/bjh.14444

Authors: Lydia H. Pecker, Beverly A. Schaefer, Lori Luchtman‐Jones

Institutions: Children's National, George Washington University, Cincinnati Children's Hospital Medical Center

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Heart, Lung, and Blood Institute