International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections With...

8/13/2019 International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections With Chromosome and Gene

1/4

International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections with Chromosome and Gene 1

Williams Hematology, 8e> Part XIII. Transfusion Medicine > Chapter 137. 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.)

Chromosome

Location

ISBT Gene

Name (ISGN

If Different)

Associated Antigens

[Null Phenotype]

Function of RBC

Membrane Component

(CD No.)

Disease Association

Blood Group Systems

ABO ABO(001)

9q34.2 ABO A, B, A, B, A1 [groupO]

Glycocalyx Altered expression insome hematologicdisorders

MNS MNS(002)

4q31.21 MNS (GYPA,GYPB)

M, N, S, s, U, He, Mia,Vw, Mc, Mur, Mg, Vr,

MtaSt

a, Ri

a, Cl

a, and 29

more [En(a); U;

MkM

k]

Binds microbe glycocalyx,complement regulation,

chaperone for band 3(CD235)

DecreasedPlasmodiumfalciparuminvasion,

may be receptorforEscherichia coli

P PI (003) 22q11.2-qter P1 P1 Glycocalyx

Rh RH (004) 1p36.11 RHD, RHCE

(RH)

D, C, E, e, e, f, Cw, Cx,

V, G, hrs, VS, D

w,

Rh29, Goa, hrB, Rh32,Rh33, and 32 more

[Rhnull]

Possibly transports CO2or

NH3(CD240)

Hemolytic anemia,

hereditarystomatocytosis,hematologic

malignancies

Lutheran LU (005) 19q13.2 LU Lua, Lu

b, Lu3, Lu4,

Lu5, Lu6, Lu7, Lu8,

Lu9, Lu11, Lu12,Lu13, and 7 more[recessive Lu(ab)]

Binds laminin (CD239) Increased expressionspossibly involved in

vasoocclusion in sicklecell disease

Kell KEL

(006)

7q34 KEL K, k, Kpa, Kpb, Ku, Jsa,

Jsb, and 23 more [K0or

Knull]

Cleaves big endothelin-3 to

ET-3, apotentvasoconstrictor(CD23

8)

Lewis LE (007) 19p13.3 LE (FUT3) Lea, Leb, Leab, Lebh,

ALeb, BLe

b[Le(ab)]

Glycocalyx, Lebis receptor

forHelicobacter pylori

Increased expression in

fucosidosis, Lewisantibodies may beimportant in graft

rejection
http://windowreference%28%27druginfo%27%2C%27drugclassification.aspx/?catid=1739%27);http://windowreference%28%27druginfo%27%2C%27drugclassification.aspx/?catid=1739%27);http://windowreference%28%27druginfo%27%2C%27drugclassification.aspx/?catid=1739%27);http://windowreference%28%27druginfo%27%2C%27drugclassification.aspx/?catid=1739%27);


2/4


Conventional

Name

ISBT

Symbol

(No.)

Chromosome

Location

ISBT Gene

Name (ISGN

If Different)

Associated Antigens

[Null Phenotype]

Function of RBC

Membrane Component

(CD No.)

Disease Association

Duffy FY (008) 1q23.2 FY (DARC) Fya, Fyb, Fy3, Fy4, Fy5,Fy6 [Fy(ab)]

\

Chemokine,Plasmodiumvivaxreceptor (CD234)

Resistance toP. vivaxinvasion

Kidd JK (009) 18q12.3 JK(HUT11,SLC4AI)

Jka, Jkb, Jk3 [Jk(ab)] Urea transporter Impaired urea transport,urine concentrating

defect

Diego DI (010) 17q21.31 DI (SLC4A1;

AE1)

Dia, Di

b, Wr

a, Wr

b,

Wda, Rb

a, and 14 more

Anion exchanger (CD233),

Band 3 cytoskeletal protein

Southeast Asian

ovalocytosis, hereditaryspherocytosis, renaltubular acidosis

Yt YT(O11) 7q22 Yt (ACHE) Yta, Ytb Acetylcholinesterase Absent from PNH IIIRBCs

Xg XG (012) Xp22.33 XG (XG,

MIC2)

Xga, CD99 Adhesion molecules

(CD99)Scianna SC (013) 1p34.2 SC (ERMAP) Sc1, Sc2, Sc3, Rd [Sc:1,2,3]

Possible adhesion

Dombrock DO (014) 12p12.3 DO (ART4) Doa, Do , Gy, Hy,

Joa[Gy(a)]

Enzymatic (CD297) Absent from PNH IIIRBCs

Colton CO (015) 7p14 CO (AQP1) Coa, Co

b, Co3 [Co(ab

)]Water transport Monosomy 7, inability

to maximallyconcentrate urine,congenitaldyserythropoietic

anemiaLandsteiner-Wiener

LW (016) 19p13.2 LW (IC AM) LWa, LWab,LW

b[LW(ab)]

Binds CD11/CD18, ligandfor integrins (CD242)

Depressed in pregnancyand some malignantdiseases

Chido/Rogers CH/RG(017)

6p21.32 C4A,C4B CH1, CH2, Rgl, andRg6 more

Complement components Certain phenotypes haveincreased susceptibilityto certain autoimmune

conditions and infections

H Hh (018) 19q13.33 H (FUT1) H [Bombay, Oh] Glycocalyx (CD 173) Decreased in sometumor cells, increased inhematopoietic stress
http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=35591%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=35591%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=35591%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=35591%27);


3/4


Conventional

Name

ISBT

Symbol

(No.)

Chromosome

Location

ISBT Gene

Name (ISGN

If Different)

Associated Antigens

[Null Phenotype]

Function of RBC

Membrane Component

(CD No.)

Disease Association

Kx XK (019) Xp21.1 XK Kx [McLeod] Possible neurotransmitter,function in RBCs notknown

Acanthocytosis,muscular dystrophy,hemolytic anemia;McLeod syndrome

sometimes associatedwith CGD, peripheral

neuropathy,cardiomyopathyseizures, a late-onset

dementia, andbehavioral changes

Gerbich GE (020) 2q14.3 GE (GYPC) Ge2, Ge3, Ge4, Wb,Ls

a, An

a, Dh

a[Leach

phenotype]

Membrane attachment;interacts with 4.1R and p55(CD236)

Hereditaryelliptocytosis, hemolyticanemia, decreased 4.1R

and p55Cromer CROM(021)

1q32.2 CROM (DAF) Cra, Tc

a, Tc , Tc

c, Dr

a,

Esa, IFC, WES

a, WES

b,

UMC, GUTI, SERF,

CROV, CRAM [Inabphenotype]

Complement regulation,binds C3b, disassemblesC3/C5 convertase (CD55)

Absent from PNH IIIRBCs, Dr

ais the

receptor for

uropathogenicE. coli

Knops KN (022) 1q32.2 KN (CR1) Kna, Kn , McC

a, SI

a,

Yka, McCb, Vil, S13,KCAM [Helgeson

phenotype]

Complement regulation,binds C3b and C4b,mediates phagocytosis(CD35)

Antigens depressed incertain autoimmune andmalignant conditions

Indian IN (023) 11p13 IN (CD44) Ina, Inb, INFI, INJA Bindshyaluronic acid,

mediates adhesion ofleukocytes (CD44)

Depressed in pregnancy,congenitaldyserythropoieticanemia

Ok Ok (024) 19p13.3 OK (BSB) Oka Possible adhesion (CD147)

Raph RAPH(025)

11p15.5 MER2(CD151)

MER2 [Raph] Adhesion moleculeinvolved in kidney function(CD151)

Renal disease

JMH JMH(026)

15q24.1 JMH (SEMAL)

JMH, JMHK, JMHL,JMKG, JMKM

Adhesion molecule,function in RBCs not

known (CD108)

Absent from PNH IIIRBCs
http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6318%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6318%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6318%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6318%27);


4/4


Conventional

Name

ISBT

Symbol

(No.)

Chromosome

Location

ISBT Gene

Name (ISGN

If Different)

Associated Antigens

[Null Phenotype]

Function of RBC

Membrane Component

(CD No.)

Disease Association

I I (027) 6p24.2 IGNT I [I; i adult] Glycocalyx Congenital cataracts inAsians

GLOB Globoside(028)

3q26.1 P ( 3GALNT1)

P [P] Glycocalyx ReceptorE. coliandparvovirus B19

Gil GIL (029) 9p13.3 GIL (AQP3) GIL [GIL] Glycerol/water/ureatransporter

RhAg RHAG(030)

6p11.21.1 RHAG Duclos, Osa, DSLK Possibly transports CO2, or

NH3(CD241)Hemolytic anemia,hereditarystomatocytosis

Antigen Collections

Cost COST(205)

Csa, Cs

b

Ii Ii (207) I

Er ER (208) Era, Er

(Pk, LKE) GLOB

(209) P

k, LKE

(Lewis-like:

Lec, Le

d)

Unnamed:

(210)

Lec, Led

Vel VEL Vel, ABTI

Low incidence

series

(700) 14

High

incidence

series

(901) 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,5and Reid ME, Lomas-Francis C.

6,15
http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6275%27);http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6275%27);http://accessmedicine.com/content.aspx?aID=6121804#6121804http://accessmedicine.com/content.aspx?aID=6121804#6121804http://accessmedicine.com/content.aspx?aID=6121804#6121804http://accessmedicine.com/content.aspx?aID=6121796#6121796http://accessmedicine.com/content.aspx?aID=6121796#6121796http://accessmedicine.com/content.aspx?aID=6121796#6121796http://accessmedicine.com/content.aspx?aID=6121797#6121797http://accessmedicine.com/content.aspx?aID=6121797#6121797http://accessmedicine.com/content.aspx?aID=6121806#6121806http://accessmedicine.com/content.aspx?aID=6121806#6121806http://accessmedicine.com/content.aspx?aID=6121806#6121806http://accessmedicine.com/content.aspx?aID=6121806#6121806http://accessmedicine.com/content.aspx?aID=6121797#6121797http://accessmedicine.com/content.aspx?aID=6121796#6121796http://accessmedicine.com/content.aspx?aID=6121804#6121804http://windowreference%28%27druginfo%27%2C%27drugcontentpopup.aspx/?mid=6275%27);

International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections With...

Documents

Transcript of International Society of Blood Transfusion Defined Blood Group Systems and Antigen Collections With...