Irene Roberts - Neonatal Haematology

1 Cover

2 Title Page Neonatal Haematology: A Practical Guide Irene Roberts Department of Paediatrics and MRC Weatherall Institute of Molecular Medicine John Radcliffe Hospital University of Oxford UK Barbara J. Bain Imperial College Faculty of Medicine St Mary’s Hospital London UK

3 Copyright Page

4 Preface

5 Abbreviations

6 1 The full blood count and blood film in healthy term and preterm neonatesIntroduction Red blood cell production and development in the fetus and neonate Leucocytes in the fetus and newborn Platelets and megakaryocytes in the fetus and neonate Practical problems in interpreting neonatal blood counts and films References

7 2 Red cell disordersNeonatal anaemia Neonatal polycythaemia Haematological causes of cyanosis Principles of red cell transfusion in neonates Illustrative cases Abbreviations used in the illustrative cases References

8 3 Neonatal infection and leucocyte disordersLeucocyte abnormalities in neonatal systemic disease Neonatal neutropenia Haematological features of neonates with Down syndrome Congenital leukaemia Illustrative cases References

9 4 Disorders of platelets and coagulation, thrombosis and blood transfusionThrombocytopenia overview Causes of neonatal thrombocytopenia: a practical classification based on age at onset Conditions leading to clinically significant thrombocytopenia in the neonate Investigation of neonatal thrombocytopenia Management of neonatal thrombocytopenia Platelet function disorders Thrombocytosis Abnormalities of coagulation Thrombosis General principles of neonatal platelet and plasma component transfusion Illustrative cases References

10 Index

11 End User License Agreement

1 Chapter 1 Table 1.1 Features of fetal and neonatal red cells compared with adult red ... Table 1.2 Impact of gestational age at birth on the principal blood count p... Table 1.3 Impact of postnatal age on Hb and Hct values in healthy term and ... Table 1.4 Causes of increased numbers of circulating nucleated red blood ce...

2 Chapter 2 Table 2.1 Mechanisms of fetal and neonatal anaemia Table 2.2 Diagnostic clues to red cell aplasia in neonates with anaemia Table 2.3 Causes of failure of red cell production in neonates with anaemia... Table 2.4 Diagnostic clues to haemolysis in neonates with anaemia and/or ja... Table 2.5 Causes of neonatal haemolytic anaemias Table 2.6 Laboratory features of ABO and Rh haemolytic disease of the fetus...Table 2.7 Red cell membrane disorders presenting with anaemia and/or jaundi...Table 2.8 Genes mutated in autosomal recessive and autosomal dominant or sp...Table 2.9 Red cell enzymopathies presenting with neonatal anaemia and/or ja...Table 2.10 Drugs and chemicals that may precipitate haemolysis in neonates ...Table 2.11 Haemoglobinopathies presenting with anaemia and/or jaundice in t...Table 2.12 Causes of neonatal microcytic anaemiaTable 2.13 Useful diagnostic tests in neonatal anaemia due to blood lossTable 2.14 Haematological causes of hydrops fetalisTable 2.15 Causes of neonatal polycythaemiaTable 2.16 Haematological causes of cyanosisTable 2.17 Indications for red cell transfusion in the neonatal period *

3 Chapter 3Table 3.1 Haematological features of infection in neonatal blood filmsTable 3.2 Causes of neutrophilia in neonatesTable 3.3 Causes of lymphocytosis in neonatesTable 3.4 Causes of eosinophilia in neonatesTable 3.5 Causes of monocytosis in neonatesTable 3.6 Causes of increased blast cells in neonatal blood filmsTable 3.7 Cytological abnormalities in metabolic and storage disorders and ...Table 3.8 Causes of neonatal neutropenia *Table 3.9 Inherited causes of severe congenital neutropenia that present in...Table 3.10 Haematological abnormalities in neonates with Down syndromeTable 3.11 Congenital leukaemias excluding those associated with Down syndr...Table 3.12 Causes of a ‘blueberry muffin’ rash in a neonate

4 Chapter 4Table 4.1 Causes of fetal thrombocytopeniaTable 4.2 Causes of early‐onset neonatal thrombocytopenia (presenting befor...Table 4.3 Causes of late‐onset neonatal thrombocytopenia (presenting after ...Table 4.4 Inherited thrombocytopenias that may present in neonates as isola...Table 4.5 Syndromic inherited thrombocytopenias that may present in the neo...Table 4.6 Inherited thrombocytopenias associated with predisposition to leu...Table 4.7 Suggested thresholds of platelet count for neonatal platelet tran...Table 4.8 Causes of abnormal neonatal platelet functionTable 4.9 Causes of neonatal thrombocytosisTable 4.10 Causes of disseminated intravascular coagulation (DIC) in neonat...

1 Chapter 1 Fig. 1.1 Ontogeny of human haemopoiesis in embryonic and fetal life. AGM, ao... Fig. 1.2 A simplified scheme of the fetal haemopoietic stem and progenitor c... Fig. 1.3 Immunophenotypically defined progenitor populations along the B cel... Fig. 1.4 Diagrammatic representation of the sites and rates of synthesis of ... Fig. 1.5 First trimester (8 weeks) fetal blood film showing the large size o... Fig. 1.6 Second trimester (14 weeks) fetal blood film showing typical erythr... Fig. 1.7 Normal blood film at term. MGG, ×40. Fig. 1.8 Normal preterm red cells at different gestational ages: (a) baby bo... Fig. 1.9 Blood film of a normal preterm baby (born at 28 weeks’ gestation) s... Fig. 1.10 Blood film showing features of hyposplenism resulting from intraut... Fig. 1.11 Blood film from a preterm neonate (born at 25 weeks’ gestation) on... Fig. 1.12 Impact of postnatal age on red cell morphology; blood films from: ... Fig. 1.13 Blood film of a preterm neonate showing normal white cells – two n... Fig. 1.14 Blood film of a healthy preterm neonate born at 25 weeks’ gestatio... Fig. 1.15 Blood film of a well preterm neonate showing a myelocyte and three... Fig. 1.16 Blood film of a preterm neonate with early clinical signs of necro... Fig. 1.17 Blood film of a preterm neonate born at 24 weeks’ gestation showin... Fig. 1.18 Blood film of a healthy term neonate with a normal blood count and... Fig. 1.19 Blood film in maternal chorioamnionitis showing neutrophilia, left... Fig. 1.20 Leucoerythroblastic blood film in a preterm neonate with hypoxic i...

2 Chapter 2 Fig. 2.1 Blood film of a term neonate with anaemia due to parvovirus B19 inf... Fig. 2.2 Bone marrow film of a neonate with Pearson syndrome showing vacuola... Fig. 2.3 Basophilic stippling in a bone marrow erythroblast (centre field) f... Fig. 2.4 Dyserythropoietic erythroblasts in the bone marrow of a neonate wit... Fig. 2.5 Peripheral blood film of a neonate with Pearson syndrome showing va... Fig. 2.6 Peripheral blood film of a neonate with Pearson syndrome showing a ... Fig. 2.7 Congenital dyserythropoietic anaemia (CDA): (a) blood film of a ter... Fig. 2.8 Typical blood film of a term neonate with ABO haemolytic disease of... Fig. 2.9 Blood film of a preterm neonate with ABO HDFN showing large numbers... Fig. 2.10 Blood film of a term neonate with severe Rh HDFN showing large num... Fig. 2.11 Blood film of a preterm neonate with Rh HDFN showing large numbers... Fig. 2.12 Blood film of a term baby with severe Rh HDFN showing dyserythropo...Fig. 2.13 Blood film of a neonate with hereditary spherocytosis showing sphe...Fig. 2.14 (a) Blood film of a neonate with hereditary spherocytosis showing ...Fig. 2.15 Blood films of a neonate with hereditary pyropoikilocytosis and he...Fig. 2.16 Blood film of an older patient with Southeast Asian ovalocytosis s...Fig. 2.17 Blood film of a neonate with oxidative haemolysis due to glucose‐6...Fig. 2.18 Blood film of a neonate with pyruvate kinase (PK) deficiency showi...Fig. 2.19 Blood film of a preterm neonate with haemoglobin Bart’s hydrops fe...Fig. 2.20 Blood film of the mother of the neonate whose film is shown in Fig...Fig. 2.21 High performance liquid chromatography (HPLC) on a BioRad Variant ...Fig. 2.22 HPLC on a BioRad Variant II instrument of a neonate with sickle ce...Fig. 2.23 Blood film of two term neonates with anaemia secondary to fetomate...Fig. 2.24 Kleihauer–Betke test. (a) This image shows maternal red blood cell...Fig. 2.25 Blood film of a term neonate born with severe anaemia (Hb 50 g/l) ...Fig. 2.26 Diagram showing a suggested approach to the diagnosis of neonatal ...Case 2.1, Fig. 1 Blood film. MGG, ×100 objective.Case 2.1, Fig. 2 Bone marrow aspirate. MGG, ×60.Case 2.2, Fig. 1 Blood film. MGG, ×100.Case 2.2, Fig. 2 Bone marrow aspirate. MGG, ×40.Case 2.3, Fig. 1 Blood film. MGG, ×40.Case 2.4, Fig. 1 Blood film. MGG, ×40.Case 2.4, Fig. 2 Blood film. MGG, ×40.Case 2.5, Fig. 1 Blood film. MGG, ×100.Case 2.5, Fig. 2 Bone marrow aspirate. MGG, ×100.Case 2.6, Fig. 1 Blood film of twin 1. MGG, ×100.Case 2.6, Fig. 2 Blood film of twin 2. MGG, ×100.Case 2.7, Fig. 1 Blood film. Based on reference 12. MGG, ×100.Case 2.8, Fig. 1 Blood film. MGG, ×100.Case 2.9, Fig. 1 Blood film. MGG, ×40.Case 2.9, Fig. 2 Kleihauer test. ×100.