In addition, 19 of 20 individuals with weak Vel expression were heterozygous for the deletion. Heterozygosity for the null allele in these individuals is most likely explained by misclassification of extremely weak Vel expression as Vel-negative. Five individuals classified as Vel-negative were heterozygous for the deletion and 1 was heterozygous for a missense mutation (M51R) only. Combined with a follow-up study of additional Vel-negative individuals, a total of 63 of 69 Vel-negative individuals were found to be homozygous for the deletion. (2013) found that 4 were homozygous and 1 was heterozygous for a 17-bp frameshift deletion in the SMIM1 gene. The deletion was not found in the 1000 Genomes Project data, but was found in the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) database: 57 of 5,763 European Americans and 6 of 3,198 in African Americans, yielding heterozygote frequencies of about 1 in 50 and 1 in 267, respectively.īy exome sequencing of 5 individuals negative for the Vel antigen, Cvejic et al. Direct genotyping identified 30 heterozygous deletion carriers among 520 Swedish blood donors. The findings were confirmed in 15 additional Vel-negative individuals, predominantly of European descent. (2013) identified a homozygous 17-bp deletion in the SMIM1 gene ( 615242.0001) in all individuals. Subsequent reports of hemolytic reactions after transfusion of Vel-positive RBCs to Vel-negative individuals with antibody to Vel, as well as hemolytic disease of the newborns of Vel-negative mothers, established Vel as a clinically important blood group antigen (summary by Storry et al., 2013).īy SNP mapping followed by candidate gene sequencing of 20 Vel-negative individuals, Storry et al. The other Vel-negative family members did not have serum anti-Vel antibodies. She developed a severe transfusion reaction and was found to carry the Vel antibody in her serum, whereas her red cells lacked the Vel antigen. The proband was a woman who had been pregnant 6 times and received blood transfusions at least twice. (1961) reported a family in which 7 individuals spanning 3 generations were negative for the Vel red blood cell antigen. Sussman and Miller (1952) first described the Vel-negative blood group phenotype in a 66-year-old woman who developed a severe acute intravascular hemolytic episode after a blood transfusion due to antibodies against a newly defined antigen named 'Vel.' She had a history of 3 pregnancies and colon cancer requiring transfusions.
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