A 35-year-old woman with homozygous sickle cell disease (HbSS) has been admitted 4 times in the past year for vaso-occlusive crises. Her hydroxyurea therapy was stopped 6 months ago due to leukopenia. Her sibling is an HLA-matched donor. According to ASH 2020 SCD guidelines, the most appropriate escalation of therapy is:
- A Resume hydroxyurea at reduced dose
- B Start chronic red cell exchange transfusion program
- C Allogeneic hematopoietic stem cell transplantation (HSCT) ✓
- D Start voxelotor (GBT440)
Explanation
Allogeneic HSCT is the only curative therapy for sickle cell disease. ASH 2020 guidelines recommend HSCT for SCD patients with severe/recurrent disease who have an HLA-matched related donor (MRD), especially in young adults before end-organ damage accumulates. With an HLA-matched sibling available and frequent crises despite attempts at disease-modifying therapy (hydroxyurea stopped due to toxicity), HSCT offers the best long-term outcome with ~90% event-free survival with MRD. Voxelotor (anti-sickling HbS polymerization inhibitor) is disease-modifying but not curative. Chronic transfusions prevent stroke but do not cure the disease.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.