Page 1908 - Hematology_ Basic Principles and Practice ( PDFDrive )

1688 Part XI Transfusion Medicine

Function Glycosylation Negative charge on sialic acid; receptor for microbes Glycosylation Structural link to underlying cytoskeleton Possibly adhesion; may mediate intracellular signaling Binds to laminin Cleaves big endothelin 3 to ET-3 (a potent vasoconstrictor) Fucosyl transferase Chemokine receptor Urea transport Anion transport CO 2/HCO 3 − exchange Enzymatic Adhesion molecule

Disease Association Altered in some hematologic disorders, leukemia Decreased Plasmodium falciparum invasion May be receptor for Escherichia coli Receptor E. coli and Parvovirus-B19 Miscarriage Hemolytic anemia; stomatocytosis Reduced expression and mosaicism in hematologic malignancies Increased expression possibly involved in vasoocclusion in sickle cell disease Depressed in McLeod syndrome (see XK) Increased expression in fucosidosis Plasm

Present in Other Tissue Secretions, platelets, broad tissue distribution Renal endothelium and epithelium Lymphocytes, granulocytes, monocytes, platelets RBC-specific Broad tissue distribution Not on lymphocytes, granulocytes, monocytes or platelets Broad tissue distribution Bone marrow, fetal liver, testes, brain, heart, skeletal muscle Saliva and body fluids, Blood cells, GI, skeletal muscle, kidney, adrenal Broad tissue distribution Endothel

Principal Associated Blood Group Antigens (null phenotype) A, B, AB, A1 (group O) M, N, S, s, U, Vw; M k M k lack GPA and GPB; En(a−) lack GPA; S−s−U− lack GPB P1, Pk (P1−, PP1Pk−) D, C, E, c, e, G, V/VS (Rh null syndrome) Lu a , Lu b , Lu3, Au a , Au b (recessive Lu(a−b−)) K, k, Kp a , Kp b , Ku, Js a , Js b (K 0 or K null ) Le a , Le b , Le ab , Le bh , ALe b , BLe b (Le(a−b−)) Fy a , Fy b , Fy3, Fy6 (Fy(a−b−)) Jk a , Jk b , J

Blood Group Systems, Antigens, Expression, and Disease Associations

Component Name Carbohydrate GPA GPB Carbohydrate RhD RhCE Lutheran glycoprotein B-CAM Kell glycoprotein Carbohydrate Adsorbed from plasma Fy glycoprotein Kidd glycoprotein Band 3, AE1 Acetyl-cholinesterase Xg a glycoprotein

Predicted Topology (Number of Amino Acids [AA]) Glycosyl-transferases Type II a (354 AA) Type I (131 AA) Type I a (72 AA) Galactosyl- transferase Type II (353 AA) Multipass—12 spans (417 AA) Type I IgSF (597 AA) (557 AA) Type II (732 AA) Not endogenous to RBCs Type II (361 AA) Multipass—7 spans (338 AA) Multipass—10 spans (389 AA) Multipass—14 spans (911 AA) GPI-linked (557 AA) Type I (180 AA) (163 AA)

Gene Name ABO GYPA (MN) GYPB (Ss) A4GALT RHD RHCE LU KEL FUT3 (LE) ACKR1 (FY) SLC14A1 (JK) SLC4A1 (DI) ACHE (YT) MIC2 (XG1)

TABLE 110.1 ISBT System Name (Number) ABO (001) MNS (002) P (003) Rh (004) Lutheran (005) Kell (006) Lewis (007) Duffy (008) Kidd (009) Diego (010) Yt (011) Xg (012)