Illuminating “the dark side of the HBB”: Visualizing the full spectrum of Cas9 outcomes
Abstract
Sickle cell disease (SCD) is one of the most prevalent and severe inherited monogenic disorders caused by a point mutation that results in a glutamic acid-to-valine substitution at position 6 of the β-globin (HBB) chain. This sickle β-globin variant (βS) combines with α-globin chains to form sickle hemoglobin (HbS), which polymerizes under low oxygen conditions, causing red blood cells (RBCs) sickling, reduced deformability, hemolysis, recurrent vaso-occlusive crises, and progressive organ damage, ultimately causing poor quality of life and shortened life expectancy.
Fields of Study & Subjects
Immunodeficiency and Autoimmune Disorders
Inflammatory Bowel Disease
Parathyroid Disorders and Treatments
Publication details
- Journal / source
- Molecular Therapy — Nucleic Acids
- Publisher
- Elsevier BV
- Volume
- 37
- Issue
- 2
- Pages
- 102920–102920
- Publication date
- 15 April 2026
- Language
- EN