Journal Article Review Research Support, N.I.H., Extramural Epublish
PubMed: 38891066 DOI: 10.3390/cells13110934
End Organ Affection in Sickle Cell Disease.
Cells 13(11)
Authors: Tanvi Bathla, Saran Lotfollahzadeh, Matthew Quisel, Mansi Mehta, Marina Malikova, Vipul C Chitalia
Affiliations
- Renal Section, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA.
- Saint Vincent's Medical Hospital, Worcester, MA 01608, USA.
- Department of Surgery, Boston University School of Medicine, Boston, MA 02118, USA.
- Veterans Affairs Boston Healthcare System, Boston, MA 02118, USA.
- Institute of Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
- Center of Cross-Organ Vascular Pathology, Department of Medicine, Boston University Medical Center, Evans Biomedical Research Center, X-530, Boston, MA 02118, USA.
Abstract
Sickle cell disease is an orphan disease affecting ethnic minorities and characterized by profound systemic manifestations. Although around 100,000 individuals with SCD are living in the US, the exact number of individuals is unknown, and it is considered an orphan disease. This single-gene disorder leads to red blood cell sickling and the deoxygenation of hemoglobin, resulting in hemolysis. SCD is associated with acute complications such as vaso-occlusive crisis, infections, and chronic target organ complications such as pulmonary disease and renal failure. While genetic therapy holds promise to alter the fundamental disease process, the major challenge in the field remains the target end organ damage and ways to mitigate or reverse it. Here, we provide an overview of the clinical manifestations and pathogenesis with a focus on end-organ damage and current therapeutic options, including recent FDA-approved stem cell and gene editing therapies.
MeSH
Cells, Genes, Microscopy, Electron, Scanning Transmission, Anemia, Sickle Cell, Acute Chest Syndrome, Therapeutics, Thrombosis