Design: WileyCover Image: Courtesy of Irene Roberts
Preface
This neonatal haematology guide aims to fill a gap in an important, but often poorly understood, area of diagnostic haematology by focusing particularly on common blood problems in this unique group of patients, although not neglecting the rarities that can also be important. We specifically chose to use a text‐atlas format because the starting point for so many haematological problems in neonates is the information to be found through careful evaluation of a blood film in conjunction with an automated blood count. Given that many neonates with haematological abnormalities weigh less than 1000 g at birth and have an estimated blood volume at birth of 40–80 ml with very precarious vascular access, there is huge practical value in being able to extract the maximum amount of diagnostic information from a single drop of blood.
The book has been organised into four chapters based on the most frequently occurring clinical problems: interpretation of normal results and blood film appearances (Chapter 1); anaemias and haematological causes of jaundice (Chapter 2); diagnosis of systemic disorders, such as infection, and less common leucocyte disorders, such as leukaemia and storage disorders (Chapter 3); and disorders of coagulation and thrombosis, including common causes of thrombocytopenia and their investigation (Chapter 4). We hope that this handbook will be a core resource for haematologists on call in any hospital with a maternity unit who may not be neonatal experts, and that it will act as a core text for neonatal and paediatric haematologists. It is very much aimed to be a practical resource, based on real‐life experience of neonatal haematology in large teaching hospitals and contains algorithms, tables and illustrative cases with full colour images. While the focus is on common problems, we also describe when to look for, and how to spot, rare haematological disorders presenting in the neonatal period.
Almost all the images and cases described in this book derive from more than 25 years’ experience as a ‘neonatal haematologist’, which involved daily examination of blood films from neonates in a number of neonatal intensive care units and special care baby units and daily conversations with the clinical teams responsible for their care. This was only possible with the support, open‐mindedness and enthusiasm of the neonatalogists on the one hand and the dedication and rigour of the highly skilled biomedical scientists of the diagnostic haematology labs on the other. Particular thanks go to David Roper, Andrew Osei‐Bimpong and the late Corinne Jury of the Hammersmith and Queen Charlotte’s Hospitals Haematology Laboratories, who made possible the delivery of a daily ‘baby films’ service in the face of increasing NHS demands; to David Roper and the late Dr David Swirsky, former consultant haematologist at Hammersmith Hospital, for their help with the photomicrographs in the earliest years of the neonatal haematology service; to countless biomedical scientists whose pride in delivering the highest quality ‘baby films’ on a daily basis was an inspiration to me; to paediatric haematology colleagues in London and Oxford who posed fascinating questions to keep me on my toes; and to the long‐suffering haematology trainees who usually managed to look interested in this niche subject and helped to deliver the clinical advice.
This book would never have been written without the help and support of a number of other people. Above all, I am hugely indebted to my co‐author, Professor Barbara Bain. She brought to the book her 50 years’ experience of diagnostic haematology. Her expertise, experience, diligence and patience, as well as her friendly advice, were invaluable. I am similarly hugely grateful to Mandy Collison at Wiley who never gave up on the project despite repeated delays on my part. Finally, I have to thank my family (Allan, Duncan and Ewan), who accepted the neonatal haematology geek in their midst, and supported the whole project from the beginning.
Irene Roberts
Abbreviations
2,3‐DPG2,3‐diphosphoglycerateADAadenosine deaminaseADPadenosine diphosphateAGMaorto‐gonado‐mesonephrosaHUSatypical haemolytic uraemic syndromeAIHAautoimmune haemolytic anaemiaALLacute lymphoblastic leukaemiaALPSautoimmune lymphoproliferative syndromeAMLacute myeloid leukaemiaAPTTactivated partial thromboplastin timeATDasphyxiating thoracic dystrophyATRUSamegakaryocytic thrombocytopenia and radio‐ulnar synostosisBCGbacille Calmette–GuérinBCSHBritish Committee for Standards in HaematologyBHFSBart's hydrops fetalis syndromeBPIbactericidal/permeability‐increasing proteinBSSBernard–Soulier syndromeCAMTcongenital amegakaryocytic thrombocytopeniaCDAcongenital dyserythropoietic anaemiaCHSChédiak–Higashi syndromeCMVcytomegalovirusCNScentral nervous systemCOVID‐19coronavirus disease 19DATdirect antiglobulin testDBADiamond–Blackfan anaemiaDICdisseminated intravascular coagulationDNAdeoxyribonucleic acidECMOextracorporeal membrane oxygenationEDTAethylene diaminetetra‐acetic acidELPearly lymphoid progenitorEMAeosin‐5‐maleimideEOSearly‐onset sepsisEPOerythropoietinERFEerythroferroneFFPfresh frozen plasmaFNAITfetal/neonatal alloimmune thrombocytopeniaFPD/AMLfamilial platelet disorder with propensity to acute myeloid leukaemiaFRCfragmented red cellG6PDglucose‐6‐phosphate dehydrogenaseG6PT1glucose‐6‐phosphate transporter 1G‐CSFgranulocyte colony‐stimulating factorGpglycoproteinGPIglucose phosphate isomeraseHbhaemoglobin concentrationHDFNhaemolytic disease of the fetus and newbornHELLPhaemolysis, elevated liver enzymes and low plateletsHIEhypoxic ischaemic encephalopathyHIVhuman immunodeficiency virusHKhexokinaseHLHhaemophagocytic lymphohistiocytosisHNAhuman neutrophil antigenHPAhuman platelet antigenHPFHhereditary persistence of fetal haemoglobinHPLChigh performance liquid chromatographyHPPhereditary pyropoikilocytosisHShereditary spherocytosisHSChaemopoietic stem cellHUShaemolytic uraemic syndromeIBMFSinherited bone marrow failure syndromesICHintracranial haemorrhageIG%immature granulocyte percentageIGFinsulin‐like growth factorIgGimmunoglobulin GIgHimmunoglobulin heavy chainIgMimmunoglobulin MIL‐6interleukin‐6IPFimmature platelet fractionIRFinterferon regulatory factorITPautoimmune thrombocytopeniaIUGRintrauterine growth restrictionIUTintrauterine transfusionIVHintraventricular haemorrhageIVIgintravenous immunoglobulinJAK2Janus kinase 2JMMLjuvenile myelomonocytic leukaemiaKHEKaposiform haemangioendotheliomaKMPKasabach–Merritt phenomenonLADleucocyte adhesion deficiencyLDHlactate dehydrogenaseLOSlate‐onset sepsisMAHAmicroangiopathic haemolytic anaemiaMAIPAmonoclonal antibody‐specific immobilisation of platelet antigensMCAmiddle cerebral arteryMCHmean cell haemoglobinMCHCmean cell haemoglobin concentrationMCVmean cell volumeMDSCmyeloid‐derived suppressor cellML‐DSmyeloid leukaemia of Down syndromeMPALmixed phenotype acute leukaemiaMPVmean platelet volumeNAnot applicableNADPHnicotinamide adenine dinucleotide phosphateNECnecrotising enterocolitisNETsneutrophil extracellular trapsNICENational Institute for Health and Care ExcellenceNICUneonatal intensive care unitNLRneonatal leukaemoid reactionNRBCnucleated red blood cellNS/MPDNoonan syndrome‐associated myeloproliferative disorderPCCprothrombin complex concentratePCRpolymerase chain reactionPFKphosphofructokinasePGKphosphoglycerate kinasePKpyruvate kinasePMNpolymorphonuclearPTprothrombin timeRNAribonucleic acidRPribosomal proteinsRSVrespiratory syncytial virusRUSAT1radio‐ulnar synostosis with amegakaryocytic thrombocytopeniaSARS‐CoV‐2severe acute respiratory syndrome coronavirus‐2SCNsevere congenital neutropeniaSGAsmall for gestational ageSIFDsideroblastic anaemia, B‐cell immunodeficiency, periodic fevers, and developmental delaySLEsystemic lupus erythematosusTACOtransfusion‐associated circulatory overloadTA‐GvHDtransfusion‐associated graft‐versus‐host diseaseTAMtransient abnormal myelopoiesisTAPStwin anaemia–polycythaemia sequenceTARthrombocytopenia with absent radiiTGFβtransforming growth factor βTOPsTransfusion of Prematures trialTPItriosephosphate isomeraseTPOthrombopoietinTRALItransfusion‐related acute lung injuryTTthrombin timeTTPthrombotic thrombocytopenic purpuraTTTStwin‐to‐twin transfusion syndromeVKDBvitamin K‐dependent bleedingVWDvon Willebrand diseaseVWFvon Willebrand factorWBCwhite cell countWHOWorld Health OrganizationXLSAX‐linked sideroblastic anaemiaXLTX‐linked thrombocytopenia
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