Оглавление
Irene Roberts. Neonatal Haematology
Table of Contents
List of Tables
List of Illustrations
Guide
Pages
Neonatal Haematology: A Practical Guide
Preface
Abbreviations
1 The full blood count and blood film in healthy term and preterm neonates. Introduction
Brief outline of the ontogeny of haemopoiesis
Properties of fetal haemopoietic stem and progenitor cells
Fetal haemopoietic stem cells
Fetal haemopoietic progenitor cells
Red blood cell production and development in the fetus and neonate
Erythropoietin production in the fetus and neonate
Haemoglobin synthesis and red blood cell production in the fetus and newborn
Red blood cell lifespan and the red blood cell membrane in the fetus and neonate
Red blood cell metabolism in the fetus and neonate
Iron metabolism in the fetus and neonate
Normal values for red blood cell parameters in the fetus and neonate. Haemoglobin concentration and red blood cell indices
Reticulocytes and circulating nucleated red blood cells
Red blood cell morphology
Blood volume
Folic acid and vitamin B12
Leucocytes in the fetus and newborn
Leucocyte production and function in the fetus and neonate
Neutrophils
Monocytes
Eosinophils
Lymphocytes
Blast cells
Leucocyte function in the fetus and neonate
Platelets and megakaryocytes in the fetus and neonate
Developmental megakaryopoiesis and thrombopoiesis
Platelet numbers in the neonate and fetus – normal values
Neonatal platelet function
Practical problems in interpreting neonatal blood counts and films. Sample quality/artefacts
Site of sampling
Gestational age and postnatal age
Pregnancy‐associated complications and mode of delivery
References
2 Red cell disorders: anaemia, jaundice, polycythaemia and cyanosis. Neonatal anaemia. Definition and clinical significance of neonatal anaemia
Neonatal anaemia due to reduced red cell production
Parvovirus B19 and fetal/neonatal anaemia
Genetic red cell aplasia and dysplasia
Diamond–Blackfan anaemia
Pearson syndrome
Congenital dyserythropoietic anaemias
Neonatal anaemia due to increased red cell destruction
Immune haemolysis, including haemolytic disease of the fetus and newborn
ABO haemolytic disease of the fetus and newborn
Rh haemolytic disease of the fetus and newborn
Management of haemolytic disease of the fetus and newborn
Neonatal haemolytic anaemia due to red cell membrane disorders
Hereditary spherocytosis
Hereditary elliptocytosis and hereditary pyropoikilocytosis
Southeast Asian ovalocytosis
Neonatal haemolysis due to red cell enzymopathies
Glucose‐6‐phosphate dehydrogenase deficiency
Pyruvate kinase deficiency
Infantile pyknocytosis
Other red cell enzymopathies
Other causes of neonatal haemolytic anaemia
Neonatal haemolytic anaemia due to infection
Neonatal anaemia due to extrinsic causes of red cell destruction
Neonatal anaemia due to haemoglobinopathies and other microcytic anaemias
Alpha thalassaemia major (haemoglobin Bart’s hydrops fetalis)
Haemoglobin H disease in the newborn
Neonatal haemolysis due to unstable α chain variants
Neonatal haemolysis due to unstable γ chain variants
Heterozygosity for εγβδ thalassaemia
Beta globin disorders in the neonatal period
Beta thalassaemias
Sickle cell disease
Neonatal microcytic anaemia
Sideroblastic anaemias presenting in the neonatal period
Neonatal anaemia due to blood loss
Twin‐to‐twin transfusion
Fetomaternal haemorrhage
Neonatal anaemia due to blood loss at or after delivery
Anaemia of prematurity
Management of anaemia of prematurity
Delayed clamping of the cord to minimise neonatal anaemia
Top‐up red cell transfusion
Erythropoiesis‐stimulating agents to treat and prevent neonatal anaemia
A simple diagnostic approach to neonatal anaemia
Neonatal polycythaemia
Haematological causes of cyanosis
Principles of red cell transfusion in neonates
Illustrative cases
Case 2.1 Diamond–Blackfan anaemia. Case history
Preliminary investigations
Further investigations
Management
Case 2.2 A congenital dyserythropoietic anaemia. Case history
Preliminary investigations
Further investigations
Diagnostic notes
Case 2.3 Haemolytic disease of the fetus and newborn due to anti‐B. Case history
Preliminary investigations
Further investigations
Diagnostic notes
Case 2.4 Hereditary pyropoikilocytosis (α spectrinLELY) Case history
Preliminary investigations
Differential diagnosis of neonatal microcytic anaemia (see Table 2.12)
Further investigations
Management
Diagnostic notes
Case 2.5 Pyruvate kinase deficiency. Case history
Initial investigations
Follow‐up
Diagnostic notes
Case 2.6 Infantile pyknocytosis. Case history
Preliminary investigations (age 3 weeks)
Further investigations
Clinical course
Diagnostic notes
Case 2.7 Methylene blue‐induced haemolytic anaemia. Case history
Investigations
Progress and management
Diagnostic notes
Case 2.8 Haemoglobin Bart’s hydrops fetalis. Case history
Preliminary investigations (at birth)
Further investigations
Progress and management
Diagnostic notes
Case 2.9 Fetomaternal haemorrhage. Case history
Preliminary investigations (at birth)
Further investigations
Principle of the Kleihauer–Betke test (acid elution) and estimation of the volume of fetomaternal haemorrhage
Progress and management
Diagnostic notes
Abbreviations used in the illustrative cases
References
3 Neonatal infection and leucocyte disorders. Leucocyte abnormalities in neonatal systemic disease. Increases in leucocyte numbers
Causes and significance of neonatal neutrophilia
Causes and significance of neonatal lymphocytosis
Causes and significance of neonatal eosinophilia
Causes and significance of abnormalities in monocyte number in neonates
Circulating blast cells in neonates
Neonatal infection and its differential diagnosis: clues from the blood count and blood film
Acute bacterial infection
Maternal chorioamnionitis
Leucocyte vacuolation
Viral infection
Storage disorders: diagnostic clues from the blood film
Neonatal neutropenia. Definition and causes of neutropenia
Immune neutropenia
Alloimmune neonatal neutropenia
Neonatal neutropenia due to maternal autoantibodies
Inherited congenital or neonatal neutropenia
Severe congenital neutropenia due to ELANE mutation
Shwachman–Diamond syndrome
Severe congenital neutropenia due to glucose‐6‐phosphate transporter (SLC37A4) mutation
Severe congenital neutropenia due to HAX1 mutation
Haematological features of neonates with Down syndrome
Congenital leukaemia
Leukaemia and preleukaemia in neonates with Down syndrome. Overview and definition
Clinical features
Haematological features
Molecular genetics
Natural history and prognosis
Fetal presentation of transient abnormal myelopoiesis
Acute leukaemia in neonates without Down syndrome
Clinical features
Haematological features
Molecular genetics
Treatment
Supportive care
Chemotherapy and haemopoietic stem cell transplantation
Juvenile myelomonocytic leukaemia and Noonan syndrome myeloproliferative disorder
Illustrative cases
Case 3.1 Pelger–Huët anomaly and infection. Case history
Progress
Diagnostic notes
Case 3.2 Transient abnormal myelopoiesis in a neonate with Down syndrome. Case history
Investigations
Progress
Diagnostic notes
Case 3.3 Noonan syndrome myeloproliferative disorder. Case history
Investigations
Progress
Further investigations
Diagnostic notes
Abbreviations used in the illustrative cases
References
4 Disorders of platelets and coagulation, thrombosis and blood transfusion. Thrombocytopenia overview
Causes of neonatal thrombocytopenia: a practical classification based on age at onset
Fetal thrombocytopenia
Early‐onset neonatal thrombocytopenia (presenting at <72 hours of age)
Neonatal thrombocytopenia associated with intrauterine growth restriction and other placental insufficiency syndromes
Causes of severe early‐onset thrombocytopenia
Late‐onset neonatal thrombocytopenia (presenting at >72 hours of age)
Conditions leading to clinically significant thrombocytopenia in the neonate
Fetal/neonatal alloimmune thrombocytopenia
Management of fetal/neonatal alloimmune thrombocytopenia
Antenatal management of fetal/neonatal alloimmune thrombocytopenia
Neonatal thrombocytopenia due to maternal autoimmune disease
Thrombocytopenia due to congenital infections
Congenital cytomegalovirus infection
Other congenital viral infections
Congenital parasitic infections
Other congenital infections associated with neonatal thrombocytopenia: tuberculosis and syphilis
Neonatal thrombocytopenia associated with chromosomal abnormalities
Inherited thrombocytopenia
Non‐syndromic inherited thrombocytopenia presenting as isolated thrombocytopenia
Bernard–Soulier syndrome
Other causes of isolated inherited thrombocytopenia presenting in the neonatal period
Syndromic inherited thrombocytopenias that may present in the neonatal period
Chédiak–Higashi syndrome
FLNA ‐associated thrombocytopenia
Jacobsen syndrome/Paris–Trousseau thrombocytopenia
MYH9 ‐related thrombocytopenia
Stormorken syndrome and York platelet syndrome
Thrombocytopenia with absent radii syndrome
Wiskott–Aldrich syndrome and X‐linked thrombocytopenia
X‐linked thrombocytopenia due to GATA1 mutation
Other rare syndromic inherited platelet disorders
Inherited thrombocytopenias associated with predisposition to leukaemia and bone marrow failure
Congenital amegakaryocytic thrombocytopenia
Inherited thrombocytopenias with increased susceptibility to leukaemia (FPD/AML, ANKRD26 ‐related thrombocytopenia and ETV6 ‐related thrombocytopenia)
Radio‐ulnar synostosis: amegakaryocytic thrombocytopenia and MECOM syndrome
Other rare inherited thrombocytopenias presenting in the neonatal period
Investigation of neonatal thrombocytopenia
Management of neonatal thrombocytopenia
Indications for platelet transfusion
Platelet function disorders
Inherited platelet function disorders with normal platelet counts presenting in the neonate
Thrombocytosis
Abnormalities of coagulation
Developmental haemostasis
Laboratory investigation of coagulation disorders in the neonate
Acquired coagulation abnormalities
Disseminated intravascular coagulation
Vitamin K deficiency
Inherited coagulation disorders
Thrombosis
Screening tests for thrombophilia in neonates
Acquired thrombotic abnormalities
Inherited thrombotic abnormalities
General principles of neonatal platelet and plasma component transfusion
Platelet transfusion
Fresh frozen plasma
Cryoprecipitate
Prothrombin complex and recombinant factor VIIa
Illustrative cases
Case 4.1 Cytomegalovirus infection: more than one cause of thrombocytopenia. Case history
Investigations
Progress
Diagnostic notes
Case 4.2 Congenital coxsackievirus infection with disseminated intravascular coagulation. Case history
Preliminary investigations
Further investigations
Diagnostic notes
Case 4.3 Fetal/neonatal alloimmune thrombocytopenia in a preterm baby. Case history
Investigations
Progress
Diagnostic notes
Abbreviations used in the illustrative cases
References
Index
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