This chapter provides an overview of the lysosomal storage diseases (LSDs) with particular reference to their specific hematologically related manifestations or treatments. Comprehensive reviews, such as Chapters in the Metabolic and Molecular Bases of Inherited Diseases, 9 th ed., are…
Immune compromise arises either as a heritable genetic defect (primary immune deficiency diseases, PIDDs) or as a consequence of another pathologic process such as infection, malignancy, malnourishment, or iatrogenic immunosuppression (secondary immune deficiencies). Immune dysfunction in patients with PIDDs is…
The immune system is a complex network of cells that serve to discriminate “self” from “nonself”—that is, to recognize one cell as one's own and another cell as foreign or infected. This capacity helps protect the organism from infection by…
Definition and Classification of Phagocytes Phagocytic leukocytes are bone marrow-derived cells that have the capacity to engulf and digest particulate matter. Phagocytes are essential for the host response to infection and injury and are equipped with specialized machinery enabling them…
The thalassemias are a heterogeneous group of inherited forms of anemia caused by mutations that affect the synthesis of hemoglobin. Milder forms are among the most common genetic disorders, whereas the severe forms, which are seen less often, lead to…
The first report of sickle cell anemia (SCA) in the medical literature described a dental student from Grenada, Walter Clement Noel. It was by Herrick and Irons in 1910 and introduced the word sickle in the title of the case…
Studies of hemoglobin (Hb) structure, function, and expression over more than 50 years have produced many paradigms in biology and medicine. The first part of this chapter describes the structural and biochemical properties of Hb, emphasizing those that underlie its…
Most hemolytic anemias can be categorized, at least at first approximation, as being either inherited or acquired as a result of either intracorpuscular or extracorpuscular causes. Hemolytic anemia associated with deficiency of glucose-6-phosphate dehydrogenase (G6PD) glaringly defies this categorization. Indeed,…
The mature erythrocyte, devoid of nucleus, mitochondria, ribosomes, and other organelles, has no capacity for cell replication, protein synthesis, or oxidative phosphorylation. The glycolytic production of adenosine triphosphate (ATP), the sole known energy source of erythrocytes, is sufficient to meet…
During erythropoiesis the red cell membrane responds to erythropoietin and imports the billion or so iron atoms each red cell needs to complete hemoglobin synthesis. It sequesters the reductants required to protect hemoglobin and other cell proteins from corrosion by…