Table 1.
New antigens added to blood group systems
Blood group system | Antigen number | Alt. name | Prevalence | Molecular basis | Protein change |
---|---|---|---|---|---|
MNS | MNS47 | SARA | Low | GYPA c.240G>T | p.Arg80Ser |
MNS | MNS48 | KIPP | Low | GYP(B-A-B) hybrid | p.Ser51a GPB(1-26)-GPwB(27-54)-GPA(55-57)-Bs(58-103) |
LU | LU23 | LUIT | High | LU c.469G>A, 1289C>T | p.Gly157Arg, p.Thr430Ile |
LU | LU24 | LUGA | High | LU c.212G>A | p.Arg71His |
DO | DO9 | DOLC | High | ART4 c.566C>T | p.Thr189Met |
DO | DO10 | DODE | High | ART4 c.405C>A | p.Asp135Glu |
GLOB | GLOB2 | PX2 | Highb | B3GALNT1 | c |
Vel | VEL1 | Vel | High | SMIM1 c.64_80delGTCAGCCTAGGGGCTGT | p.Ser22Glnfs*270 |
CD59 | CD59.1 | – | High | CD59 c.146delA | p.Asp49Valfs*31 |
AUG | AUG1 | – | High | ENT1 c.589 + 1G>C | p.Ser197fs |
AUG | AUG2 | Ata | High | ENT1 c.1171G>A | p.Glu391Lys |
Distinguishes this protein from other known GP(B-A-B) hybrids.
Although PX2 is a product of β1,3GalNAc-T1 and therefore present on RBCs of common phenotype, it is absent from RBCs of and phenotypes whilst highly expressed on RBCs of the p phenotype.
Thus, all mutations causing the of and phenotypes also cause lack of PX2.