Allogeneic transplantation for haemoglobinopathies

Area of Science:

• Hematology
• Pediatric Hematology
• Transplantation Medicine

Background:

• Beta-thalassaemia major and sickle-cell disease (SCD) significantly impact lifespan and quality of life globally.
• Allogeneic stem cell transplantation (SCT) is the only curative option for both beta-thalassaemia major and SCD.
• Current treatment paradigms and decision-making for SCT differ significantly between these two genetic blood disorders.

Purpose of the Study:

• To review the evidence guiding the recommendation of SCT for patients with beta-thalassaemia major and SCD.
• To delineate the distinct criteria and outcomes associated with SCT for each condition.
• To aid physicians in evaluating SCT for individual patient management.

Main Methods:

• Review of existing evidence and clinical data on SCT outcomes for beta-thalassaemia major and SCD.
• Comparative analysis of SCT decision-making processes for both diseases.
• Evaluation of survival and disease-free survival rates post-SCT.

Main Results:

• For beta-thalassaemia major, SCT is recommended for patients under 17, offering ~80% long-term survival and ~70% thalassaemia-free survival.
• SCT provides a survival advantage for non-compliant thalassaemic patients but has inferior short-term survival compared to optimal medical care.
• For severe SCD, particularly with neurological complications, SCT offers ~92% long-term survival and ~86% SCD-free survival.

Conclusions:

• SCT is a crucial curative therapy for beta-thalassaemia major and selected severe SCD cases.
• Tailored approaches to SCT recommendation are essential due to the distinct pathophysiology and clinical heterogeneity of these disorders.
• Physicians require comprehensive evidence to optimize SCT decision-making for individual patients.