Human Blood Groups. Blackwell Science

Transcription

1 Human Blood Groups

2 Human Blood Groups Geoff Daniels BSc, PhD, MRCPath Senior Research Fellow Bristol Institute for Transfusion Sciences Molecular Diagnostics Manager International Blood Group Reference Laboratory UK Foreword by Ruth Sanger SECOND EDITION Blackwell Science

3 1995, 2002 by Blackwell Science Ltd a Blackwell Publishing Company Editorial Offices: Osney Mead, Oxford OX2 0EL, UK Tel: +44 (0) Blackwell Science, Inc., 350 Main Street, Malden, MA , USA Tel: Blackwell Science Asia Pty, 54 University Street, Carlton, Victoria 3053, Australia Tel: +61 (0) Blackwell Wissenschafts Verlag, Kurfürstendamm 57, Berlin, Germany Tel: +49 (0) The right of the Author to be identified as the Author of this Work has been asserted in accordance with the Copyright, Designs and Patents Act All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. First published 1995 Second edition 2002 ISBN Catalogue records for this title are available from the Library of Congress and the British Library Set in 9/12 Sabon by SNP Best-set Typesetter Ltd, Hong Kong Printed at the Alden Press Ltd, Oxford and Northampton and bound by MPG Books Ltd, Bodmin, Cornwall For further information on Blackwell Science, visit our website:

4 Contents Foreword, vii Preface, ix Some abbreviations used, x 1 Human blood groups: introduction, terminology, and function, 1 2 ABO, Hh, and Lewis systems, 7 Part 1: History and introduction, 7 Part 2: Biochemistry, inheritance and biosynthesis of the ABH and Lewis antigens, 9 Part 3: ABO, Hh and secretor systems, 25 Part 4: Lewis system, 59 Part 5: Tissue distribution, disease associations, and functional aspects, 67 3 MNS blood group system, 99 4 P blood groups, Rh blood group system, Lutheran blood group system, Kell blood group system, Duffy blood group system, Kidd blood group system, Diego blood group system, Yt blood group system, Xg blood group system, Scianna blood group system and the Radin antigen, Dombrock blood group system, Colton blood group system, LW blood group system, Chido/Rodgers blood group system, Gerbich blood group system, Cromer blood group system, Knops blood group system and the Cost antigens, Indian blood group system and the AnWj antigen, Ok blood group system, RAPH blood group system, JMH blood group system, Ii antigens and cold agglutination, Er antigens, Low frequency antigens, High frequency antigens, 505 v

5 CONTENTS 29 Sid antigens, Human leucocyte associated (HLA) Class I antigens on red cells, Polyagglutination and cryptantigens, Blood group gene mapping, 533 Index, 549 vi

6 Foreword It is a particular pleasure for me to welcome this new book on human blood groups, the more so since it emanates from the Medical Research Council s Blood Group Unit. For 25 years this Unit devoted its energies to the search for new red cell antigens and the application of those already known to various problems, particularly to human genetics. During these years Rob Race and I produced six editions of Blood Groups in Man. Dr Geoff Daniels joined the Unit in 1973 on Dr Race s retirement; soon after, concurrently with the Unit s move from the Lister Institute to University College, the scope of the Unit s interest was broadened. Having been divorced from blood groups and otherwise occupied in 12 years of retirement, I am delighted and astonished at the rapid advances made in recent years. The number of blood group loci have increased to 23 and all except one have found their chromosomal home. The biochemical backgrounds of most of the corresponding antigens are defined and hence several high and low incidence antigens gathered into systems. The molecular basis of many red cell antigens has provided an explanation for some confusing serological relationships which were observed many years before. Dr Daniels is to be congratulated on his stamina in producing a comprehensive text and reference book on human blood groups, for which many scientists will be grateful. Ruth Sanger December 1994 vii

7 Preface As with the first edition, the primary purpose of this book is to describe human blood group antigens and their inheritance, the antibodies that define them, the structure and functions of the red cell membrane macromolecules that carry them, and the genes that encode them or control their biosynthesis. In addition, this book provides information on the clinical relevance of blood groups and on the importance of blood group antibodies in transfusion medicine in particular. The first edition of Human Blood Groups was published in 1995; this new edition will appear seven years later. There have been many new findings in the blood group world over those seven years, so much of the first edition has been rewritten. In order to prevent the book from becoming too cumbersome, my goal has been to produce a second edition roughly the same size as the first. I have tried to do this without eliminating anything too important, although this has not been easy, with so much new material to include. During the last seven years, the major advances that have occurred in the science of human blood groups have mostly involved molecular genetics. With the exception of Scianna, RAPH, and possibly P, the genes for all the blood group systems have been cloned and the molecular bases for almost all the polymorphisms are known. Most chapters now have the biochemistry and molecular biology section at the beginning, so that when the serological polymorphisms and variants are subsequently explained, they can be described together with the genetic changes that cause them. Another topic that has progressed apace is the biological significance of red cell surface proteins. Consequently, I have placed a greater emphasis on functional aspects of blood groups than in the first edition. I wish to thank again all the people who helped me produce the first edition, in particular Patricia Tippett, Carole Green, and Joan Daniels. Since the first edition was published, the Medical Research Council Blood Group Unit has closed and I have moved to the Bristol Institute for Transfusion Sciences. I would like to thank David Anstee for his support while I prepared this new edition. I am proud to keep the foreword to the first edition written by Ruth Sanger, author of six editions of Blood Groups in Man, who sadly died just a few weeks before the manuscript of this second edition was submitted for publication. ix

8 Some abbreviations used ADP ATP AET AIDS AIHA BFU-E bp CDA CGD cdna CFU-E CFU-GM CFU-MK DAT DHTR DL DNA DTT EBV EST GDP GPI HCF HDN Adenosine diphosphate Adenosine triphosphate 2-aminoethylisothiouronium bromide Acquired immune-deficiency syndrome Autoimmune haemolytic anaemia Burst-forming unit erythroid Basepair Congenital dyserythropoietic anaemia Chronic granulomatous disease Complementary deoxyribonucleic acid Colony-forming unit erythroid Colony-forming unit granulocyte/ macrophage Colony-forming unit megakaryocyte Direct antiglobulin test (or direct antiglobulin reaction) Delayed haemolytic transfusion reaction Donath-Landsteiner Deoxyribonucleic acid Dithiothreitol Epstein Barr virus Expressed sequence tag Guanosine diphosphate Glycosylphosphatidylinositol Hydatid cyst fluid Haemolytic disease of the newborn (also used for haemolytic disease of the fetus) IHTR Immediate haemolytic transfusion reaction ISBT International Society of Blood Transfusion kb Kilobase LISS Low ionic-strength solution MAIEA Monoclonal antibody-specific immobilization of erythrocyte antigens M r Relative molecular mass (molecular weight) mrna Messenger ribonucleic acid PAS Periodic acid Schiff PCH Paroxysmal cold haemoglobinuria PCR Polymerase chain reaction PNH Paroxysmal nocturnal haemoglobinuria RFLP Restriction fragment-length polymorphism RNA Ribonucleic acid RT-PCR Reverse transcriptase-polymerase chain reaction SAO South-East Asian ovalocytosis SDS PAGE Sodium dodecyl sulphate polyacrylamide gel electrophoresis SNP Single nucleotide polymorphism SSEA Stage-specific embryonic antigen UDP Uridine diphosphate x