The porphyrias and the sideroblastic anemias are metabolic disorders that involve defects in heme biosynthesis. Most forms of porphyria are inherited in a Mendelian autosomal dominant pattern, but some types are recessive, and others are acquired through exposure to porphyrinogenic…
Anemia of chronic inflammation (ACI) is also termed anemia of chronic disease and considered the second most frequent anemia in the world, after iron deficiency anemia (IDA). ACI is also the most common anemia in hospitalized patients, found in conditions…
Iron is an essential nutrient for every cell of the body. Both decreased and increased total body iron, as well its inappropriate tissue distribution may be clinically important. In iron deficiency, limitation of the synthesis of physiologically active iron-containing compounds…
Iron is an essential trace element required for energy production, oxygen transport and utilization, and cellular proliferation. Iron is a catalyst, acting as an electron donor and an electron acceptor by readily interconverting between ferric (Fe 3+ ) and ferrous…
Anemia is the clinical state of red cell mass inappropriately low for the individual’s physiologic state. Anemias are among the most commonly encountered laboratory findings and clinical disorders in hematology. They encompass a broad range of clinical disorders and diseases…
Anemia, polycythemia, and functional derangements of the human erythrocyte together represent a common group of human disorders with a significant impact on public health. Sickle cell disease, hemoglobin E (HbE)–associated disorders, and the thalassemias are humankind’s most common single-gene diseases,…
Acquired pure red cell aplasia (PRCA) is characterized by the presence of an acquired severe normochromic, most frequently normocytic anemia associated with a complete disappearance of reticulocytes and erythroid precursors in the marrow and normal production of myeloid cells and…
Introduction and History Paroxysmal nocturnal hemoglobinuria (PNH) is an opportunity to expound upon three major topics: hemolytic anemia, autoimmune-mediated bone marrow failure, and thrombosis. For the physician explaining a new diagnosis to the patient, PNH is now a cause for…
Aplastic anemia (AA), the paradigm of the bone marrow (BM) failure syndromes, is most simply defined as peripheral blood pancytopenia and a hypocellular BM ( Fig. 31.1 ). AA occurring as a primary hematologic disorder is historically denoted idiopathic, but…
Introduction Inherited bone marrow (BM) failure is defined herein as decreased production of one or more of the major hematopoietic lineages; i.e., red blood cells (RBCs), neutrophils, and platelets, due to germline mutations that were derived from the parents or…