Sickle Cell Disease
Sickle cell disease (SCD) is an inherited hemoglobinopathy, which is caused by a mutation of the β-globin (HBB) gene. This mutation causes the production of misshapen ‘sickled’ erythrocytes, which cause vaso-occlusive disease, vasculopathy, and organ damage; reducing both quantity and quality of life. SCD is one of the most common serious genetic diseases in childhood and is more common in those of African or Mediterranean ancestry.
Hematopoietic stem cell transplant may cure the condition, but is not suitable for most patients with SCD. So for the majority of patients SCD is a life-long condition, and they require treatments such as blood transfusions and hydroxyurea, as well as symptom control with opioids. Newer treatments include voxelotor and crizanlizumab, and there have been exciting developments in gene therapy for SCD.