Pathogenesis and Treatment of Hemophilia
Fig. 9.1 Linear representation of F8, the structure of FVIII, and its cleavage site. The 26 exons (above) and domain organization (below) of FVIII based on amino acid homology. Activation…
Inherited Bone Marrow Failure Syndrome, TAM
Fig. 7.1 Model of p53 stabilization in response to impaired ribosome biogenesis in DBA. Normal erythroblasts produce large numbers of ribosomes for protein synthesis. Levels of p53 remain low via…
Acute Myeloid Leukemia
AML with recurrent genetic abnormalities AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1 AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22);CBFB-MYH11 APL with PML-RARA AML with t(9;11)(p21.3;q23.3); MLLT3-KMT2A AML with t(6;9)(p23;q34.1); DEK-NUP214 AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);…
Hemophagocytic Lymphohistiocytosis, Secondary
Fig. 13.1 Pathophysiology of infectious mononucleosis (a) and hemophagocytic lymphohistiocytosis (b) due to primary EB virus infection. EBV-IM EB virus-associated infectious mononucleosis, EBV-HLH EB virus-associated hemophagocytic lymphohistiocytosis, INFγ interferon, IL-6…
Childhood Aplastic Anemia
Idiopathic AA Secondary AA Hepatitis associated Secondary (drug/chemical/radiation/infection) Inherited AA Fanconi anemia Dyskeratosis congenita Shwachman-Diamond syndrome Congenital amegakaryocytic thrombocytopenia Others Myelodysplastic syndrome Refractory cytopenia of childhood (provisional) Refractory cytopenia with…
Thrombotic Disorders
Fig. 10.1 Systemic thromboembolic conditions in children and adults. TTP thrombotic thrombocytopenic purpura, ECMO extracorporeal membrane oxygenation, TAFI thrombin-activatable fibrinolysis inhibitor, TFPI tissue factor pathway inhibitor 10.2 Inherited Thrombophilia and…
Immune and Inherited Thrombocytopenia in Children
Fig. 8.1 Population-based epidemiological study of 7774 patients with ITP in a Japanese population [9]. A population of 7774 patients with ITP were analyzed retrospectively using the database registry of…
Neutropenia (In Infancy and Childhood)
Disease Mutated gene Inheritance Associated features 1. Severe congenital neutropenias SCN1 (elastase deficiency) ELANE AD Susceptibility to myelodysplastic syndrome/acute myelogenous leukemia SCN2 (GFI1 deficiency) GFI1 B/T lymphopenia SCN3 (Kostmann disease) HAX1…
Transfusion-Related Immunomodulation (TRIM): From Renal Allograft Survival to Postoperative Mortality in Cardiac Surgery
Fig. 13.1 Risk of postoperative infection after transfusion of non-WBC-reduced allogeneic RBCs or whole blood, as compared with transfusion of WBC-reduced allogeneic RBCs or whole blood. Randomized controlled trials (RCTs)…
Storage Lesion: Evolving Concepts and Controversies
Licensed RBC additive solutions Constituents (mM) SAGM AS-1 AS-3 AS-5 AS-7 MAP PAGGSM NaCl 150 154 70 150 85 72 NaHCO3 26 Na2HPO4 12 16 NaH2PO4 …
