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Erythrocyte Antigens and Antibodies > Definitions and History > INTERNATIONAL SOCIETY OF BLOOD TRANSFUSION DEFINED BLOOD GROUP SYSTEMS AND ANTIGEN COLLECTIONS WITH CHROMOSOME AND GENE Conventional Name ISBT Symbol (No.) Blood Group Systems ABO ABO (001) MNS MNS (002) Chromosome Location ISBT Gene Name (ISGN If Different) ABO Associated Antigens [Null Phenotype] Function of RBC Membrane Component (CD No.) Glycocalyx Disease Association
9q34.2
A, B, A, B, A1 [group O] M, N, S, s, U, He, Mia, Vw, Mc, Mur, Mg, Vr, Mta Sta, Ria, Cla, and 29 more [En(a); U; Mk Mk] P1 D, C, E, e, e, f, Cw, Cx, V, G, hrs, VS, Dw, Rh29, Goa, hrB, Rh32, Rh33, and 32 more [Rhnull] Lua, Lub, Lu3, Lu4, Lu5, Lu6, Lu7, Lu8, Lu9, Lu11, Lu12, Lu13, and 7 more [recessive Lu(ab)] K, k, Kpa, Kpb, Ku, Jsa, Jsb, and 23 more [K0 or Knull] Lea, Leb, Leab, Lebh, ALeb, BLeb[Le(ab)]
4q31.21
Altered expression in some hematologic disorders Decreased Plasmodium falciparum invasion, may be receptor forEscherichia coli
P Rh
PI (003) RH (004)
22q11.2-qter 1p36.11
Hemolytic anemia, hereditary stomatocytosis, hematologic malignancies Increased expressions possibly involved in vasoocclusion in sickle cell disease
Lutheran
LU (005)
19q13.2
LU
Kell
KEL (006)
7q34
KEL
Lewis
LE (007)
19p13.3
LE (FUT3)
Cleaves big endothelin-3 to ET-3, a potentvasoconstrictor(CD23 8) Glycocalyx, Leb is receptor Increased expression in forHelicobacter pylori fucosidosis, Lewis antibodies may be important in graft rejection
1
International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections with Chromosome and Gene
Associated Antigens [Null Phenotype] Fya, Fyb, Fy3, Fy4, Fy5, Fy6 [Fy(ab)] \ Jka, Jkb, Jk3 [Jk(ab)] Dia, Dib, Wra, Wrb, Wda, Rba, and 14 more Yta, Ytb Xga, CD99 Sc1, Sc2, Sc3, Rd [Sc: 1, 2, 3] Doa, Dob, Gy, Hy, Joa[Gy(a)] Coa, Cob, Co3 [Co(ab )]
Disease Association
Kidd
JK (009)
18q12.3
Urea transporter
Diego
DI (010)
17q21.31
Yt Xg Scianna Dombrock
Impaired urea transport, urine concentrating defect Southeast Asian ovalocytosis, hereditary spherocytosis, renal tubular acidosis Absent from PNH III RBCs
Absent from PNH III RBCs Monosomy 7, inability to maximally concentrate urine, congenital dyserythropoietic anemia Depressed in pregnancy and some malignant diseases Certain phenotypes have increased susceptibility to certain autoimmune conditions and infections Decreased in some tumor cells, increased in hematopoietic stress
2
Colton
CO (015)
7p14
CO (AQP1)
Water transport
LandsteinerWiener Chido/Rogers
LW (016)
19p13.2
LW (IC AM)
LWa, LWab, LWb [LW(ab)] CH1, CH2, Rgl, and Rg6 more
CH/RG (017)
6p21.32
C4A,C4B
Hh (018)
19q13.33
H (FUT1)
H [Bombay, Oh]
International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections with Chromosome and Gene
Conventional Name Kx
Function of RBC Membrane Component (CD No.) Possible neurotransmitter, function in RBCs not known
Disease Association
Gerbich
GE (020)
2q14.3
GE (GYPC)
Ge2, Ge3, Ge4, Wb, Lsa, Ana, Dha[Leach phenotype] Cra, Tca, Tcb, Tcc, Dra, Esa, IFC, WESa, WESb, UMC, GUTI, SERF, CROV, CRAM [Inab phenotype] Kna, Knb, McCa, SIa, Yka, McCb, Vil, S13, KCAM [Helgeson phenotype] Ina, Inb, INFI, INJA
Membrane attachment; interacts with 4.1R and p55 (CD236) Complement regulation, binds C3b, disassembles C3/C5 convertase (CD55)
Cromer
CROM (021)
1q32.2
CROM (DAF)
Acanthocytosis, muscular dystrophy, hemolytic anemia; McLeod syndrome sometimes associated with CGD, peripheral neuropathy, cardiomyopathy seizures, a late-onset dementia, and behavioral changes Hereditary elliptocytosis, hemolytic anemia, decreased 4.1R and p55 Absent from PNH III RBCs, Dra is the receptor for uropathogenic E. coli
Knops
KN (022)
1q32.2
KN (CR1)
Complement regulation, binds C3b and C4b, mediates phagocytosis (CD35) Binds hyaluronic acid, mediates adhesion of leukocytes (CD44) Possible adhesion (CD147) Adhesion molecule involved in kidney function (CD151) Adhesion molecule, function in RBCs not known (CD108)
Indian
IN (023)
11p13
IN (CD44)
Ok Raph
19p13.3 11p15.5
JMH
15q24.1
International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections with Chromosome and Gene
ISBT Symbol (No.) I (027) Globoside (028) GIL (029) RHAG (030)
ISBT Gene Name (ISGN If Different) IGNT P ( 3GALNT 1) GIL (AQP3) RHAG
Associated Antigens [Null Phenotype] I [I; i adult] P [P] GIL [GIL] Duclos, Osa, DSLK
Function of RBC Membrane Component (CD No.) Glycocalyx Glycocalyx Glycerol/water/urea transporter Possibly transports CO2, or NH3(CD241)
Disease Association
Antigen Collections Cost COST (205) Ii Ii (207) Er ER (208) (Pk, LKE) (Lewis-like: Lec, Led) Vel Low incidence series High incidence series GLOB (209) Unnamed: (210) VEL (700) (901)
Vel, ABTI 14 2
CGD, chronic granulomatous disease; ISGN, International Society for Gene Nomenclature. SOURCE: Data from Daniels GL, Anstee DJ, Cartron J-P, et al,13 Issitt PD, Anstee DJ,5 and Reid ME, Lomas-Francis C.6,15
International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections with Chromosome and Gene