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Contents

Preface, xiii Acknowledgements, xv List of Abbreviations, xvii About the Companion Website, xxi 1 Introduction to Blood Science, 1 1.1 What is blood science?, 1 1.2 Biochemistry, 6 1.3 Blood transfusion, 8 1.4 Genetics, 10 1.5 Haematology, 14 1.6 Immunology, 17 1.7 The role of blood science in modern healthcare, 19 1.8 What this book will achieve, 22 Summary, 23 References, 23 Further reading, 23 Web sites, 23 2 Analytical Techniques in Blood Science, 25 2.1 Venepuncture, 25 2.2 Anticoagulants, 26 2.3 Sample identification and tracking, 27 2.4 Technical and analytical confidence, 27 2.5 Major techniques, 32 2.6 Molecular genetics, 43 2.7 Point of care testing, 47 2.8 Health and safety in the laboratory, 48 Summary, 49 Further reading, 50 Web sites, 50 3 The Physiology of the Red Blood Cell, 51 3.1 Introduction, 51 3.2 The development of blood cells, 52 3.3 Erythropoiesis, 56 3.4 The red cell membrane, 58 3.5 The cytoplasm of the red cell, 60 3.6 Oxygen transport, 66 3.7 Recycling the red cell, 68 3.8 Red cell indices in the full blood count, 69 3.9 Morphology of the red cell, 72 Summary, 74 Further reading, 74 4 The Pathology of the Red Blood Cell, 75 4.1 Introduction: diseases of red cells, 75 4.2 Anaemia resulting from attack on, or stress to, the bone marrow, 78 4.3 Anaemia due to deficiency, 80 4.4 Intrinsic defects in the red cell, 85 4.5 External factors acting on healthy cells, 100 4.6 Erythrocytosis and polycythaemia, 103 4.7 Molecular genetics and red cell disease, 105 4.8 Inclusion bodies, 105 4.9 Case studies, 105 Summary, 107 References, 107 Further reading, 107 5 White Blood Cells in Health and Disease, 109 5.1 Introduction, 109 5.2 Leukopoiesis, 111 5.3 Neutrophils, 115 5.4 Lymphocytes, 116 5.5 Monocytes, 117 5.6 Eosinophils, 118 5.7 Basophils, 119 5.8 Leukocytes in action, 120 5.9 White cells in clinical medicine, 127 5.10 Case studies, 132 Summary, 132 Further reading, 133 6 White Blood Cell Malignancy 135 6.1 The genetic basis of leukocyte malignancy, 135 6.2 Tissue techniques in haemato-oncology, 139 6.3 Leukaemia, 141 6.4 Lymphoma, 149 6.5 Myeloma and related conditions, 152 6.6 Myelofibrosis and myelodysplasia, 157 6.7 Case studies, 157 Summary, 158 Further reading, 159 Guidelines, 159 7 The Physiology and Pathology of Haemostasis, 161 7.1 The blood vessel wall, 162 7.2 Platelets, 163 7.3 The coagulation pathway, 165 7.4 Haemostasis as the balance between thrombus formation and removal, 168 7.5 The haemostasis laboratory, 171 7.6 The pathology of thrombosis, 173 Summary, 175 Further reading, 175 8 The Diagnosis and Management of Disorders of Haemostasis, 177 8.1 Thrombosis 1: overactive platelets and thrombocytosis, 177 8.2 Thrombosis 2: overactive coagulation, 181 8.3 Haemorrhage 1: platelet underactivity and thrombocytopenia, 193 8.4 Haemorrhage 2: coagulation underactivity, 199 8.5 Disseminated intravascular coagulation, 203 8.6 Molecular genetics in haemostasis, 204 8.7 Case studies, 205 Summary, 206 References, 206 Further reading, 207 Guidelines, 207 Web sites, 207 9 Immunopathology, 209 9.1 Introduction, 209 9.2 Basics of the immune system, 210 9.3 Humoral immunity, 212 9.4 Immunopathology 1: immunodeficiency, 215 9.5 Immunopathology 2: hypersensitivity, 221 9.6 Immunopathology 3: autoimmune disease, 226 9.7 Immunotherapy, 232 9.8 The immunology laboratory, 234 9.9 Case studies, 238 Summary, 239 References, 240 Further reading, 240 Guidelines, 240 Web sites, 240 10 Immunogenetics and Histocompatibility, 241 10.1 The genetics of antigen recognition, 241 10.2 Human leukocyte antigens, 245 10.3 Transplantation, 251 10.4 Autoimmunity and human leukocyte antigens, 257 Summary, 260 Further reading, 260 Guidelines, 260 Web sites, 260 11 Blood Transfusion, 261 11.1 Blood collection and processing, 262 11.2 Blood groups, 265 11.3 Laboratory practice of blood transfusion, 273 11.4 Clinical practice of blood transfusion, 279 11.5 Hazards of blood transfusion, 281 Summary, 284 References, 284 Further reading, 284 Guidelines, 284 Web sites, 285 12 Waste Products, Electrolytes and Renal Disease, 287 12.1 Renal anatomy and physiology, 287 12.2 Homeostasis, 288 12.3 Excretion, 295 12.4 Renal endocrinology, 297 12.5 Renal disease, 298 12.6 Case studies, 301 Summary, 303 Further reading, 303 Guidelines, 303 Web sites, 303 13 Hydrogen Ions, pH, and Acid Base Disorders, 305 13.1 Ions and molecules, 305 13.2 Blood gases, 308 13.3 Acidosis (pH <7.3), 312 13.4 Alkalosis (pH >7.5), 313 13.5 Mixed acid base conditions, 314 13.6 Clinical interpretation, 314 13.7 Case studies, 315 Summary, 316 Further reading, 317 Web site, 317 14 Glucose, Lipids and Atherosclerosis, 319 14.1 Glucose, 319 14.2 Dyslipidaemia, 333 14.3 Atherosclerosis, 343 14.4 Case studies, 347 Summary, 348 Further reading, 348 Guidelines, 349 Web sites, 349 15 Calcium, Phosphate, Magnesium and Bone Disease, 351 15.1 Calcium, 352 15.2 Phosphates, 355 15.3 Magnesium, 355 15.4 The laboratory, 355 15.5 Disorders of calcium homeostasis, 357 15.6 Disorders of phosphate homeostasis, 360 15.7 Disorders of magnesium homeostasis, 362 15.8 Bone physiology, 363 15.9 Bone disease, 364 15.10 Case studies, 368 Summary, 369 Further reading, 370 Guidelines, 370 Web sites, 370 16 Nutrients and Gastrointestinal Disorders, 371 16.1 Nutrients, 371 16.2 The intestines, 375 16.3 Case studies, 381 Summary, 382 Further reading, 382 Guidelines, 382 17 Liver Function Tests and Plasma Proteins, 383 17.1 Anatomy and physiology of the liver, 384 17.2 Liver function tests, 389 17.3 Diseases of the liver, 390 17.4 Plasma proteins, 396 17.5 Case studies, 405 Summary, 406 Further reading, 406 Web sites, 406 18 Hormones and Endocrine Disorders, 407 18.1 Endocrine physiology, 407 18.2 The pathology of the endocrine system, 417 18.3 Case studies, 434 Summary, 435 Further reading, 435 Web sites, 436 19 Cancer and Tumour Markers, 437 19.1 General concepts in cancer biology, 437 19.2 Blood science and cancer, 440 19.3 Molecular genetics, 444 19.4 Case studies, 445 Summary, 446 Further reading, 446 Guidelines, 447 Web sites, 447 20 Inherited Metabolic Disorders, 449 20.1 The genetics of inheritance, 449 20.2 Molecular inherited metabolic disorders, 451 20.3 Organelle inherited metabolic disorders, 455 20.4 Antenatal diagnosis and neonatal screening, 455 20.5 Case studies, 456 Summary, 457 Further reading, 457 21 Drugs and Poisons, 459 21.1 Toxicology, 459 21.2 Toxicology of specific compounds, 461 21.3 Therapeutic drug monitoring, 465 21.4 Case studies, 468 Summary, 469 References, 469 Further reading, 469 22 Case Reports in Blood Science, 471 Abbreviations, 471 Case report 1, 472 Anaemia, hypercalcaemia, proteinuria, myeloma Case report 2, 473 Diabetes, glycated haemoglobin, chronic renal failure Case report 3, 474 Acute kidney injury, leucocytosis, neutrophilia, viruses Case report 4, 475 Part 1: Obesity, colorectal cancer, CEA, hypothyroidism. Part 2: Alcoholism, raised GGT and triacylglycerols Case report 5, 477 Part 1: No abnormalities. Part 2: Asthma, raised IgE. Part 3: Falling haemoglobin, rising ESR, lung cancer Case report 6, 479 Hypothyroidism, marginally reduced haemoglobin Case report 7, 480 Raised CRP, ESR, rheumatoid factor and anti-nuclear antibodies; borderline anti-dsDNA antibodies, low C3, low eGFR and so mild renal failure, systemic lupus erythematosus Case report 8, 481 Normal blood results in renal transplantation Case report 9, 482 Falling albumin, eGFR, haemoglobin, red cell count and platelets, rising ESR, white cell count and neutrophila, CRP, urea and creatinine, septicaemia Case report 10, 484 Microcytic anaemia, thrombocytopenia, lymphocytosis, abnormal LFTs, falling albumin, raised CRP, myositis with raised CK, viruses Case report 11, 486 Acidosis, hyperglycaemia, diabetic ketoacidosis, acute renal injury, raised urea and creatinine Case report 12, 487 Low haemoglobin, thrombocytopenia, raised CRP and d-dimers, abnormal LFTs, malaria, pregnancy Case report 13, 488 Raised aldosterone, hypernatraemia, hypokalaemia, Conn s syndrome Case report 14, 489 Paediatric diabetic ketoacidosis, hyperglycaemia, low bicarbonate, raised phosphates, ALP and proteins References, 490 Appendix: Reference Ranges, 491 Further Reading, 493 Glossary, 495 Index, 519

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