Augustine blood group system
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The Augustine blood group system is a human blood group system. It includes four red blood cell surface glycoprotein antigens which are encoded by alleles of the gene SLC29A1.[1]
The protein which acts as the Augustine antigens is equilibrative nucleoside transporter 1, a transmembrane glycoprotein that mediates cellular uptake of nucleosides.[2] This protein is abundant in erythroid progenitor cells and in mature red blood cells.[3] There are four known variants of the antigen: AUG1, AUG2, AUG3, and AUG4.[1] One person may express multiple variants; AUG:1,2,4 (expressing AUG1, AUG2, and AUG4) is the common phenotype.[3]
| Number | Name | Prevalence | Allele |
|---|---|---|---|
| AUG1 | High | Splice site variant | |
| AUG2 | Ata | High | Glu391Lys |
| AUG3 | ATML | Low | p.Thr387Pro |
| AUG4 | ATAM | High | p.Asn81Ser |
Clinical significance
Antibodies against Augustine system antigens can be stimulated by pregnancy or blood transfusion and have the potential to cause severe hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions.[1][3]
In red blood cells, the Augustine antigen protein seems to play a role in adenosine transport in cell differentiation, when immature cells become red blood cells.[3] Individuals with the null phenotype, lacking any form of the transporter protein, have mineralization around the joints, ectopic calcification, and abnormal red blood cells.[3][4]