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Chapter 058. Anemia and Polycythemia (Part 2)

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Anemia and Polycythemia. Erythropoietin levels in response to anemia.. When the hemoglobin level falls to 120 g/L (12 g/dL), plasma. erythropoietin levels increase logarithmically. In the presence of renal disease or chronic inflammation, EPO levels are typically lower than expected for a particular level of anemia. As individuals age, the level of EPO needed to sustain normal hemoglobin levels appears...

Chapter 058. Anemia and Polycythemia (Part 3)

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Anemia and Polycythemia. Approach to the Patient: Anemia. The evaluation of the patient with anemia requires a careful history and physical examination. Nutritional history related to drugs or alcohol intake and family history of anemia should always be assessed. Certain geographic backgrounds and ethnic origins are associated with an increased likelihood of an inherited disorder of the hemoglobin molecule or...

Chapter 058. Anemia and Polycythemia (Part 6)

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Reticulocyte Count. An accurate reticulocyte count is key to the initial classification of anemia.. Normally, the reticulocyte count ranges from 1–2% and reflects the daily replacement of 0.8–1.0% of the circulating red cell population. A reticulocyte count provides a reliable measure of red cell production.. In the initial classification of anemia, the patient's reticulocyte count is compared with the expected...

Chapter 058. Anemia and Polycythemia (Part 7)

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Anemia and Polycythemia. Table 58-4 Calculation of Reticulocyte Production Index. Correction #1 for anemia:. This correction produces the corrected reticulocyte count. In a person whose reticulocyte count is 9%, hemoglobin 7.5 g/dL, hematocrit 23%, the absolute reticulocyte count = 9 x (7.5/15) [or x (23/45)]=. Correction #2 for longer life of prematurely released reticulocytes in the blood:. This correction produces...

Chapter 058. Anemia and Polycythemia (Part 8)

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Anemia and Polycythemia. Bone Marrow Examination. A bone marrow aspirate and smear or a needle biopsy may be useful in the evaluation of some patients with anemia. In patients with hypoproliferative anemia and normal iron status, a bone marrow is indicated. Marrow examination can diagnose primary marrow disorders such as myelofibrosis, a red cell maturation defect, or an infiltrative disease...

Chapter 058. Anemia and Polycythemia (Part 9)

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The physiologic classification of anemia. In the first branch point of the classification of anemia, a reticulocyte production index >. 2.5 indicates that hemolysis is most likely. A reticulocyte production index <. 2 indicates either a hypoproliferative anemia or maturation disorder. The latter two possibilities can often be distinguished by the red cell indices, by examination of the peripheral blood...

Chapter 058. Anemia and Polycythemia (Part 1)

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In these cases, iron is taken up by the mitochondria of the developing erythroid cell but not incorporated into heme. The iron-encrusted mitochondria surround the nucleus of the erythroid cell, forming a ring. In contrast to anemias associated with an inappropriately low reticulocyte production index, hemolysis is associated with red cell production indices ≥2.5 times normal. The red cell indices...

Chapter 058. Anemia and Polycythemia (Part 11)

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Anemia and Polycythemia. An overriding principle is to initiate treatment of mild to moderate anemia only when a specific diagnosis is made. Rarely, in the acute setting, anemia may be so severe that red cell transfusions are required before a specific diagnosis is made. Whether the anemia is of acute or gradual onset, the selection of the appropriate treatment is...

Chapter 058. Anemia and Polycythemia (Part 12)

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Approach to the Patient: Polycythemia. 58-18, the first step is to document the presence of an increased red cell mass using the principle of isotope dilution by administering. 51 Cr-labeled autologous red blood cells to the patient and sampling blood radioactivity over a 2-h period.. If the red cell mass is normal (<36 mL/kg in men, <32 mL/kg in women),...

Chapter 059. Bleeding and Thrombosis (Part 1)

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Bleeding and Thrombosis (Part 1). Bleeding and Thrombosis. Bleeding and Thrombosis: Introduction. The human hemostatic system provides a natural balance between procoagulant and anticoagulant forces. The procoagulant forces include platelet adhesion and aggregation and fibrin clot formation. anticoagulant forces include the natural inhibitors of coagulation and fibrinolysis.. Under normal circumstances, hemostasis is regulated to promote blood flow. however, it is...

Chapter 059. Bleeding and Thrombosis (Part 2)

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Coagulation is initiated by tissue factor (TF) exposure, which, with. factor (F)VIIa, activates FIX and FX, which in turn, with FVIII and FV as cofactors, respectively, results in thrombin formation and subsequent conversion of fibrinogen to fibrin. Thrombin activates FXI, FVIII, and FV, amplifying the coagulation signal. Once the TF/FVIIa/FXa complex is formed, tissue factor pathway inhibitor (TFPI) inhibits the...

Chapter 059. Bleeding and Thrombosis (Part 3)

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Sites of action of the four major physiologic antithrombotic pathways:. tissue factor pathway inhibitor (TFPI);. and the fibrinolytic system, consisting of plasminogen, plasminogen activator (PA), and plasmin. FDP, fibrin(ogen) degradation products. Antithrombin (or antithrombin III) is the major plasma protease inhibitor of thrombin and the other clotting factors in coagulation. Antithrombin neutralizes thrombin and other activated coagulation factors by forming...

Chapter 059. Bleeding and Thrombosis (Part 4)

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Bleeding and Thrombosis (Part 4). Approach to the Patient: Bleeding and Thrombosis. Disorders of hemostasis may be either inherited or acquired. A detailed personal and family history is key in determining the chronicity of symptoms and the likelihood of the disorder being inherited and it provides clues to underlying conditions that have contributed to the bleeding or thrombotic state. In...

Chapter 059. Bleeding and Thrombosis (Part 5)

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It is uncommon in children with mild bleeding disorders. Menorrhagia is a common symptom in women with underlying bleeding disorders and is reported in the majority of women with vWD and factor XI deficiency and in symptomatic carriers of hemophilia A. Postpartum hemorrhage is a common symptom in women with underlying bleeding disorders. Rupture of ovarian cysts with intraabdominal hemorrhage...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 1)

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Harrison's Internal Medicine >. Implications of Molecular Genetics for Internal Medicine. 63) and Mendelian disorders (Chap. However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer. Genetic contributions to these common disorders involve more than the ultimate expression of...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 2)

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Screening individuals of Jewish descent for the autosomal recessive neurodegenerative disorder Tay-Sachs disease has resulted in a dramatic decline in the incidence of this syndrome in the United States. On the other hand, screening for sickle cell disease or trait in the African-American population has sometimes resulted in insurance and employment discrimination.. The Family History. Pending further advances in genetic...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 3)

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Recall of family history is often inaccurate. This is especially so when the history is remote and families become more dispersed geographically. It can be helpful to ask patients to fill out family history forms before or after their visits, as this provides them with an opportunity to contact relatives. Attempts should be made to confirm the illnesses reported in...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 4)

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The Practice of Genetics in Clinical Medicine. Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 86) can each be caused by mutations in distinct genes. The pattern of disease transmission, clinical course, and treatment may differ significantly, depending on the...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 5)

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In the absence of additional familial or environmental risk factors, individuals who test negative for the mutation found in the affected family member can be informed that they are at general population risk for that particular disease.. For example, children at risk for familial adenomatous polyposis (FAP), associated with alterations in the APC gene, may develop polyps as early as...