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Protecting patients with sickle cell disease from alloimmunization risk: benefits of genotyping

What is this research about?

Red blood cell (RBC) transfusion is an important treatment for some patients with sickle cell disease (SCD), one of the most common blood disorders in the world. Transfusion can reduce morbidity and mortality in patients with SCD, but it comes with risks: if donor RBCs have antigens that are not found on the patient’s RBCs, the patient’s immune system attacks the donor’s foreign RBC antigens through a process called alloimmunization. Alloimmunization puts SCD patients at risk of a haemolytic transfusion reaction (HTR), life-threatening hyperhaemolysis (rapid destruction of red blood cells) and other adverse outcomes. To minimize these risks, SCD patients are antigen matched to donors whose blood is typed for key RBC antigens through serology-based phenotyping. However, serological phenotyping is not foolproof; even when patients receive antigen-matched blood, alloimmunization rates can still reach 15% due to weak and partial antigen expression—this happens when mutations in one of the genes that code for a blood group antigen creates a variant of an RBC antigen. This study assessed whether genotyping could identify antigens not detected through serologic matching alone. By identifying differences in RBC antigen prediction and retrospectively evaluating alloimmunization-related outcomes, this study could help ensure safer transfusions for SCD patients.  

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