Thalassemias
Chapter Outline HUMAN HEMOGLOBINS: COMPOSITION AND GENETICS Globin Gene Structure Regulation of Globin Gene Expression CLASSIFICATION OF THE THALASSEMIAS Origin of Thalassemia Mutations: The Influence of Malaria Classes of Mutations…
Blood Coagulation
Chapter Outline OVERVIEW OF COAGULATION Initiation Propagation Termination Flow Regulation THE VITAMIN K–DEPENDENT PROTEIN FAMILY Factor VII (Proconvertin, Convertin) Factor IX (Plasma Thromboplastin Component, Christmas Factor, Hemophilia B Factor) Factor…
Hemophilia and von Willebrand Disease
Chapter Outline HEMOPHILIA A AND HEMOPHILIA B Pathophysiology Demographics and Classification Clinical Manifestations Musculoskeletal Bleeding Life-Threatening Hemorrhages Preparation for Surgery Miscellaneous Hemorrhages Long-Term Complications of Joint Bleeding Symptomatic Carriers Laboratory…
Infant Leukemias
Chapter Outline EPIDEMIOLOGY PRENATAL ORIGIN OF INFANT LEUKEMIA RISK FACTORS BIOLOGY OF MIXED-LINEAGE LEUKEMIA TRANSLOCATIONS ACUTE LYMPHOBLASTIC LEUKEMIA Clinical and Biologic Features Prognostic Factors and Outcomes Treatment ACUTE MYELOID LEUKEMIA…
Lysosomal Storage Diseases
Chapter Outline THE LYSOSOMAL SYSTEM Morphology and Physiology Biosynthesis and Biogenesis Pathogenesis OVERVIEW OF LYSOSOMAL STORAGE DISEASES AND THEIR DIAGNOSES The Sphingolipidoses The Mucopolysaccharidoses Multiple Sulfatase Deficiency Mucolipidosis Type II/…
Acquired Platelet Defects
Chapter Outline QUANTITATIVE PLATELET ABNORMALITIES Thrombocytopenia Thrombocytosis ACQUIRED DEFECTS IN PLATELET FUNCTION Drug-Induced Platelet Dysfunction Platelet Abnormalities Associated with Systemic Diseases Platelets play a critical role in hemostasis. When the…
Rare Hereditary Coagulation Factor Abnormalities
Chapter Outline FIBRINOGEN DISORDERS Hypofibrinogenemia and Afibrinogenemia Dysfibrinogenemia PROTHROMBIN DISORDERS Factor V Deficiency Combined Deficiency of Factor V and Factor VIII Factor X Deficiency Factor VII Deficiency Factor XI Deficiency…
Genetic Predisposition to Cancer
Chapter Outline PRINCIPLES OF CANCER PREDISPOSITION IDENTIFICATION OF A CHILD WITH A CONDITION PREDISPOSING TO CANCER Features of Family History Suggestive of a Heritable Predisposition to Cancer Tumor Features Suggestive…
Primary Immunodeficiency Diseases
Chapter Outline COMBINED IMMUNODEFICIENCIES Severe Combined Immunodeficiency Other Forms of Combined Immunodeficiency with Variable Presentation MANAGEMENT OF COMBINED IMMUNODEFICIENCY Diagnostic Approach Hematopoietic Stem Cell Transplantation Gene Therapy IMMUNODEFICIENCY SYNDROMES Wiskott-Aldrich…
Genetics and Epigenetics of Childhood Cancers
Chapter Outline FUNCTIONAL GENETICS OF CHILDHOOD CANCER PREDISPOSITION SYNDROMES DYSREGULATION OF CELL DIVISION AND GROWTH DNA REPAIR AND GENOME INSTABILITY ABERRANT GENE EXPRESSION SOMATICALLY ACQUIRED GENE MUTATIONS AND CANCER GENOMICS…
