Sickle cell disease articles from across Nature Portfolio

It remains unknown why only some sickle cell disease (SCD) patients develop lung thrombosis. Here, the authors show that an extracellular vesicle-dependent mechanism prevents lung thrombosis in SCD and how a CD39 polymorphism impairs this protection to promote lung thrombosis in subset of patients.

Alahmari et al. combine orthotopic liver transplantation with haploidentical hematopoietic stem cell transplant in patients with severe SCD and advanced liver disease. They demonstrate the feasibility of this dual approach, with stable engraftment and immune tolerance achieved through a nonmyeloablative conditioning regimen.

DNA methylation is a critical component for repression of fetal haemoglobin in adult blood cells. Removing DNA methylation from the fetal haemoglobin promoter effectively upregulates the gene, opening avenues for the treatment of blood disorders.

Amuzu et al. assess the levels of foetal haemoglobin and F cells and their relationship with sickle cell disease clinical manifestations in Ghana, Nigeria and Tanzania. HbF and F cell parameters show significant association with transfusion rates, frequency of painful crises and episodes of febrile illness.

Prime editing can efficiently rewrite the genetic mutation causing sickle cell disease, in haematopoietic stem cells from patients.

New targets, new drug modalities and new business strategies are drawing long-awaited attention to sickle cell disease.