Index A Acute splenic sequestration crisis (ASSC), 71 Abnormal chromosomal breakage test, 387 Adenosine deaminase activity (ADA), 372 ABO hemolytic disease, 325 Allo-immune thrombocytopenia, 116 Acquired aplastic anemia (AAA) Alternative pathway, 489 clinical features, 371 Anemia, 323, 326 definition and classifications, 371 chronic disease, 375, 376 diagnosis and management, 371 congenital dyserythropoietic anemias, 381 etiology and pathogenesis, 371 fanconi anemia, 374, 375 incidence, 370 folic acid deficiency, 380, 381 Acquired disorders of coagulation iron deficiency anemia, 377–379 coaguloapathy vitamin B12 deficiency, 379, 380 liver failure, 264 ANKRD26-related thrombocytopenia massive transfusion, 264, 265 (ANKRD26-RT), 143 disseminated intravascular Anticoagulation therapy, 348–350 coagulation, 261–263 Antiphospholipid antibodies (APAs), 273 platelet dysfunction, renal failure, 263 Antithrombin (AT) deficiency, 272 sepsis Aplastic anemia (AA) consensus definition, 259 clinical presentation, 393 multiple hematologic diagnosis and severity stratification, manifestations, 259 393, 395 organ injury, 260 differential diagnosis, 393 pathogenesis, 260 eltrombopag, 397 TAMOF, 261 epidemiology, 391 TTP, 261 etiology, 392 Acquired thromboembolic events, 346 hematopoietic stem cell transplant, 398 Acquired von Willebrand Syndrome (AVWS) idiopathic AA, 391 definition, 240 immunosuppressive therapy, 396 diagnosis, 240–242 infection prevention and treatment, 396 management, 242–244 pathophysiology, 392 pathophysiology, 240 transfusion support, 395 Activated partial thromboplastin time Aplastic crisis, 71 (aPTT), 251 Arteriovenous malformation, 476 ACTN1-related thrombocytopenia Atypical hemolytic uremic syndrome (aHUS), (ACTN1-RT), 144 54, 61, 62, 492 Acute chest syndrome (ACS), 71 Autoimmune lymphoproliferative syndrome Acute renal failure (ARF), 73 (ALPS), 164 © Springer Nature Switzerland AG 2021 503 D. M. Kamat, M. Frei-Jones (eds.), Benign Hematologic Disorders in Children, https://doi.org/10.1007/978-3-030-49980-8 504 Index Autoimmune neutropenia (AIN), 199, erythropoietin, 434 200, 439 febrile non-hemolytic transfusion Autosomal Dominant Hyper IgE Syndrome reaction, 431 (AD-HIES), 220–222 granulocytes, 428 Autosomal recessive HIES oral iron supplementation, 433 (AR-HIES), 222–223 packed red blood cells, 423, 425 Avascular necrosis (AVN), 75 platelets, 426 replacement donor, 417 screening in donated blood and B methodology, 419 Barth syndrome, 198 set evidence-based guidelines, 432 Basophilia, 210 TACO, 430 Basophilic stippling, 379 TA-GVHD, 432 Bernard-Soulier syndrome (BSS), 157, 345 TRALI, 429 Bilirubin metabolism Breast milk jaundice, 355 breast milk jaundice, 355 Breastfeeding jaundice, 356 breastfeeding jaundice, 356 clinical manifestation, 353 Crigler-Najjar syndrome, 357–359 C Dubin-Johnson syndrome, 359, 360 C3 convertase, 489 Gilbert disease, 356 Capillary malformations (CM), 466 physiologic jaundice, 355 Catheter associated thrombus, 277 progressive familial intrahepatic Central venous catheter (CVC), 275 cholestasis, 361, 363 Cerebral sinus venous thrombosis reticuloendothelial system, 353 (CSVT), 280 Rotor syndrome, 360, 361 Cerebrovascular accident (CVA) Bilirubin UDP-glucuronosyltransferase, 354 or stroke, 72 Bleeding disorders Chediak-Higashi syndrome (CHS), 224 acute bleeding management, 304, 305 Chronic granulomatous disease diagnosis, 296 (CGD), 215–216 incidence, 296 Chronic idiopathic neutropenia (CIN), 200 long-term management, 305 Chronic neutropenia, 439 medical and family history, 299, 300 Chronic thromboembolic pulmonary physical examination, 299 hypertension (CTEPH), 289 platelet function disorders, 304 Classical pathway, 489 secondary iron deficiency, 305, 306 Coagulation testing, 340 Von Willebrand disease, 303–304 Coaguloapathy, 264, 265 Blood transfusion, 330 Cold agglutinin syndrome (CAS), 53 acute hemolytic reaction, 429 Complement dysregulation adverse effects, 428 atypical hemolytic uremic syndrome, 492 allergic reactions, 430 CD59 deficiency, 499 apheresis donation, 418 paroxysmal nocturnal hemoglobinuria, avoidance, 432 496, 499 blood component pneumococcal hemolytic uremic bacterial platelet unit, 420 syndrome, 495, 496 fractionation, 418 treatment considerations, 499, 500 irradiation, 421 Complement factor H (CFH), 492 pathogen inactivation of platelet Complement system unit, 420 alternative pathway, 489 preservation, 418 classical pathway, 489 pre-storage leukoreduction, 419 humoral and cell mediated immune blood donation policy and responses, 487 infrastructure, 417 lectin pathway, 489 Index 505 membrane bound inhibitors, 490 Febrile non-hemolytic transfusion monocytes, macrophages and epithelial reaction, 431 cells, 487 Folate deficiency Congenital amegakaryocytic diagnosis, 25 thrombocytopenia (CAMT), 141, etiology, 25 160, 345 incidence, 24 Congenital dyserythropoietic anemias pathophysiology, 24 (CDAs), 381 treatment, 25 Congenital hemangioma, 459 Folic acid deficiency, 380, 381 Conjugated bilirubin, 354 Cooley’s anemia, 94 Crigler-Najjar Syndrome, 357–359 G Gilbert disease clinical presentation, 356 D epidemiology, 356 D1472H polymorphism, 235 management, 357 Deep vein thrombosis (DVT), 278 pathophysiology, 356 Delayed cord clamping (DCC), 330 Glanzmann thrombasthenia, 147, 157, Desmopressin (DDAVP), 243 158, 345 Developmental anomalies, 477–478 Glucose-6-phosphate dehydrogenase (G6PD) Diamond-Blackfan Anemia (DBA) deficiency, 99–101 clinical features, 372 Glucose-6-phosphate isomerase (GPI) diagnosis and management, 372 deficiency, 102 etiology and pathogenesis, 372 Glycogen storage disease 1b incidence, 371 (GSD 1b), 198 DiGeorge syndrome, 146 Granulocyte function disorder Direct oral anticoagulants (DOACs), 285 AD-HIES, 220–222 Direct thrombin inhibitors (DTIs), 349 AR-HIES, 222, 223 Disseminated intravascular coagulation CGD, 215, 216 (DIC), 261–263 CHS, 224 Drug-induced neutropenia, 201 clinical presentations, 214, 215 Dubin-Johnson syndrome, 359, 360 leukocyte adhesion deficiencies (LAD) Dyskeratosis congenita (DKC), 144, 197 (see Leukocyte adhesion deficiencies (LAD)) neutrophilic dermatoses, 225 E periodontitis syndromes, 226 Eculizumab, 494 SDS, 224 Effort thrombosis, 275 SGD, 224 Eltrombopag, 397 Granulocyte transfusions, 428 Empiric antibacterial therapy, 445 Granulocytosis Enoxaparin, 349 basophilia, 210 Eosinophilia, 208–210 definition, 205 Erythropoietin (EPO), 434 eosinophilia, 208–210 Evans syndrome, 57, 116 neutrophilia, 206 absolute neutrophil count, 205 F acute neutrophilia, 207 Factor V Leiden (FVL), 273 causes, 206 Fanconi anemia (FA), 144, 196 chronic neutrophilia, 207, 208 clinical features, 375 evaluation and management, 208 diagnosis and management, 375 leukemoid reaction, 208 etiology and pathogenesis, 375 primary neutrophilia, 208 incidence, 374 reactive neutrophilia, 207 506 Index H treatment, 251–254 Haemophilus influenzae type b (Hib) vaccine, Hereditary elliptocytosis (HE) 407, 409 causes, 108 Heavy menstrual bleeding (HMB), 244 classification, 109 bleeding disorders clinical features, 108 acute bleeding management, 304, 305 prevalence, 108 long-term management, 305 Hereditary hemorrhagic telangiectasia, 481 secondary iron deficiency, 305, 306 Hereditary pyropoikilocytosis etiology, 297 (HPP), 109 incidence, 296 Hereditary spherocytic elliptocytosis initial hematologic evaluation, 301, 302 (HSE), 109 iron deficiency anemia, 302 Hereditary spherocytosis (HS) nonstructural causes, 297 causes, 106 normal menstruation, 296 classification, 106 patient-centric definition, 296 clinical features, 106 Hemangioma, 454 clinical management, 107, 108 Hematopoiesis laboratory features and diagnosis, 107 cell development stages, 3–5 Hereditary stomatocytosis (HSt) cell differentiation pathways, 3 clinical features, 110, 111 cell to cell interactions, 9, 10 clinical management, 111 cytokines, 7 hereditary xerocytosis, 110 definition, 3 laboratory features and diagnosis, 111 next generation sequencing, 3 membrane transport defects, 110 sites of, 5 overhydrated hereditary transcription factors, 6–8 stomatocytosis, 110 Hematopoietic stem cell transplant, 398 Hereditary xerocytosis (HX), 110 Hematuria, 73 High performance liquid chromatography Heme oxygenase, 353 (HPLC), 315 Hemoglobin Constant Spring (HbCS), 94 Hormonal therapy, 278 Hemoglobin electrophoresis, 314 Hyperbilirubinemia, 328, 354 Hemolytic anemia, 73 Hyper-hemolytic crisis, 71 Hemolytic disease of the fetus and Hyperplasia, 454 newborn (HDFN) Hypersplenism, 74, 162 clinical implications, 323 Hyporegenerative thrombocytopenia, 326 fetal evaluation and monitoring, Hyposthenuria, 76 326, 327 natural history of, 326 newborn management, 328–330 I outcomes, 330 Idiopathic aplastic anemia, 391 pathophysiology, 323 Idiopathic Thrombocytopenic Purpura, see prevention, 328 Immune thrombocytopenia (ITP) Hemolytic uremic syndrome (HUS), 60 Immune hemolytic anemia Hemophilia in children, 51 classification, 248 laboratory findings, 51 clinical presentation, 250 primary autoimmune hemolytic anemia diagnostic evaluation, 251 CAS, 53 epidemiology, 248, 249 diagnosis of, 52 fitusiran, 256 laboratory evaluation, 52, 53 gene therapy trials, 256 mixed autoimmune hemolytic genetics, 247, 248 anemia, 55 hemophilia A vs.