EHA Library - The official digital education library of European Hematology Association (EHA)

Maria Dominica Cappellini - Chair Introduction

During the last 2 decades the treatment of Thalassemias and Sickle Cell Disease (SCD) improved significantly, extending the survival and providing better quality of life for the affected patients, however some unmeet needs still remain and further progresses are worrented. Bone marrow transplantation is curative for up to 90% of selected patients, but serious complications can occur, especially without an HLA-matched sibling donor. Gene therapy is promising either for thalassemia and SCD but has not yet proven to be fully effective. Dr M. Weiss will discuss a future perspective for cure SCD and beta-thalassemia by genome editing of hematopoietic stem cells (HSCs), either to repair the causal mutations or to create new mutations that suppress disease phenotypes by inducing fetal hemoglobin (HbF) production in adult red blood cells (RBCs). Dr. V Viprakasit will update on iron chelation (ITC) in hemoglobinophaties that, at present, remains a pilar of the conventional treatment for these diseases in order to control morbidity and mortality. With the oral iron chelators available, improving formulation, optimizing dose administration and adapting different chelator combinations, the results in clinical practice are satisfactory although the patient’s compliance remains the main driver. Dr F. Kirkham will focus on neurological complications in SCD in children and in adults. There appears to be a familial predisposition to stroke and to high blood flow velocities in SCD, indicating that also genetic factors may play a role. Monitoring and preventing measures for neurological complications in hemoglobinophaties will be discussed.

Learning Objectives of the manuscript
After viewing this presentation the participant will be able to:
- To update on future perspectives for treating hemoglobinopathies by genome editing
- To update on iron chelation modalities having 3 iron chelators available; suggestions on how to tailor the ITC to the patient need
- To update on neurological complications in SCD: how to monitor and prevent stroke in children and in adults

Learning Objectives of the presentation
After viewing this presentation the participant will be able to:
- Understand the causes of acute neurological events, including stroke, in sickle cell disease.
- Manage acute stroke in sickle cell disease in collaboration with emergency, intensive care and stroke unit physicians and neurologists.
- Follow the guidelines for primary and secondary prevention of stroke in children and adults with sickle cell disease.