Molecular Basis and Clinical Research Progress of the Vel Blood Group System

This article focuses on the major advances in the study of the Vel blood group, which was named after a patient who experienced an adverse transfusion reaction in 1952. The antigen of this blood group is encoded by the SMIM1 gene and exhibits autosomal inheritance. The Vel blood group system currently contains only one antigen, and the anti-Vel antibody is clinically known to cause hemolytic transfusion reactions and hemolytic disease of the fetus or the newborn. The SMIM1 gene is located at chromosome 1p36.32. Its specific mutations are strongly associated with the Vel blood group phenotype. Genetic screening technology has made significant progress in the Vel blood group research, and CRISPR/Cas9 technology provides a powerful tool. The relevant study and analysis suggested that SMIM1 was linked to diseases and could potentially serve as a biomarker for tumors. The SMIM1 protein may have a potential role in Plasmodium infection, and individuals carrying a homozygous deletion of the SMIM1 gene are associated with obesity. In the future, it is expected to further reveal the molecular basis, antigenic structure and function, clinical significance and interrelationship with diseases of the Vel blood group system.