Red Blood Cell Production and Disorders

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Questions and Answers

How does hydroxyurea function as a treatment for sickle cell disease?

  • It decreases hemoglobin levels
  • It reduces white blood cell count
  • It stimulates clotting factors
  • It promotes fetal hemoglobin production (correct)

What is a common complication of sickle cell disease?

  • Leukemia
  • Avascular necrosis (correct)
  • Hypotension
  • Hypertension

What genetic mutation is responsible for thalassemia?

  • Deletion of chromosome 21
  • Mutation on either alpha or beta chain (correct)
  • Mutation on the gamma chain
  • Mutation on the delta chain

What initiates the process of hemostasis?

<p>Exposure of blood to a damaged endothelial surface (C)</p> Signup and view all the answers

What is Virchow’s Triad related to?

<p>The risk factors for thrombus formation (C)</p> Signup and view all the answers

What characterizes von Willebrand Disease?

<p>Autosomal dominant mutation on chromosome 12 (D)</p> Signup and view all the answers

What causes bleeding in Hemophilia A?

<p>Deficiency in Factor 8 (C)</p> Signup and view all the answers

Which condition is characterized by the formation of unwanted clots?

<p>Thrombophilia (B)</p> Signup and view all the answers

What is the lifespan of red blood cells (RBCs)?

<p>120 days (C)</p> Signup and view all the answers

Which vitamin is essential for DNA synthesis in red blood cell production?

<p>Vitamin B12 (B)</p> Signup and view all the answers

Which type of anemia is characterized by the presence of large and oval-shaped reticulocytes?

<p>Megaloblastic anemia (D)</p> Signup and view all the answers

What causes polycythemia vera?

<p>Neoplasm of blood progenitor cells (B)</p> Signup and view all the answers

What is a common cause of relative polycythemia?

<p>Loss of plasma volume (B)</p> Signup and view all the answers

What is the primary characteristic of iron-deficient anemia?

<p>Microcytic and hypochromic RBCs (C)</p> Signup and view all the answers

What happens to heme when red blood cells are destroyed?

<p>It becomes bilirubin. (C)</p> Signup and view all the answers

Which condition is specifically associated with sickled RBCs?

<p>Sickle-cell anemia (C)</p> Signup and view all the answers

What is a common outcome of lung infarcts in patients with sickle cell disease?

<p>Acute pain and ischemia (D)</p> Signup and view all the answers

Which of the following treatments is used for thalassemia?

<p>Iron chelation therapy (A)</p> Signup and view all the answers

Which of the following substances is released by activated platelets during hemostasis?

<p>Thromboxanes (D)</p> Signup and view all the answers

What characterizes venous thrombosis (DVT)?

<p>Asymmetric swelling and leg pain (C)</p> Signup and view all the answers

Which condition is known as Christmas disease?

<p>Hemophilia B (A)</p> Signup and view all the answers

What is the role of activated protein C in coagulation?

<p>Inactivates Factors Xa and VIIa (A)</p> Signup and view all the answers

What is a common symptom associated with Von Willebrand Disease?

<p>Frequent nosebleeds (C)</p> Signup and view all the answers

Which mutation is associated with an increased risk of DVT?

<p>Factor V Leiden mutation (B)</p> Signup and view all the answers

What leads to jaundice in relation to red blood cell destruction?

<p>Excess bilirubin production from hemolysis (D)</p> Signup and view all the answers

Which of the following is a characteristic of relative polycythemia?

<p>Decrease in plasma volume due to fluid loss (C)</p> Signup and view all the answers

What is the primary cause of megaloblastic anemia?

<p>Vitamin B12 and folate deficiency (B)</p> Signup and view all the answers

What distinguishes sickle-cell anemia from other types of anemia?

<p>Presence of sickled shape red blood cells due to beta chain mutation (C)</p> Signup and view all the answers

Which symptom is NOT typically associated with anemia?

<p>Increased appetite (A)</p> Signup and view all the answers

What is the typical lifespan of red blood cells?

<p>120 days (D)</p> Signup and view all the answers

Which factor does NOT contribute to iron-deficient anemia?

<p>Excessive vitamin B12 intake (D)</p> Signup and view all the answers

In what scenario does dilutional anemia typically occur?

<p>Increased blood volume from fluid retention (C)</p> Signup and view all the answers

What complication is characterized by a blockage of blood flow due to a clot that travels from one area of the body to another?

<p>Embolism (B)</p> Signup and view all the answers

What is the primary mechanism through which hydroxyurea treats sickle cell disease?

<p>Stimulates production of fetal hemoglobin (D)</p> Signup and view all the answers

Which of the following is a common symptom of venous thrombosis?

<p>Asymmetric swelling (A)</p> Signup and view all the answers

What treatment is commonly used for managing hemophilia A?

<p>Desmopressin (C)</p> Signup and view all the answers

What aspect of hemostasis is primarily responsible for the formation of a platelet plug?

<p>Positive feedback activation of platelets (B)</p> Signup and view all the answers

Which mutation is associated with Hemophilia B?

<p>Mutation in Factor 9 (D)</p> Signup and view all the answers

Which condition is characterized by the inappropriate formation of clots in the blood vessels?

<p>Thrombophilia (D)</p> Signup and view all the answers

What is the clinical significance of Factor V Leiden mutation?

<p>Increases risk of developing DVT (B)</p> Signup and view all the answers

What is the consequence of increased RBC destruction when it exceeds the rate of removal?

<p>Jaundice (D)</p> Signup and view all the answers

Which of the following factors can lead to relative polycythemia?

<p>Loss of plasma volume (B)</p> Signup and view all the answers

What is a defining characteristic of iron-deficient anemia?

<p>Microcytic-hypochromic red blood cells (D)</p> Signup and view all the answers

What triggers the increased production of erythropoietin (EPO) in absolute polycythemia?

<p>Hypoxia (A)</p> Signup and view all the answers

Which type of anemia is characterized by the presence of abnormal hemoglobin on the beta chain?

<p>Sickle-cell anemia (B)</p> Signup and view all the answers

What condition can occur as a result of rapid RBC loss followed by increased plasma volume?

<p>Dilutional anemia (D)</p> Signup and view all the answers

Which symptom is typically associated with reduced oxygen-carrying capacity in anemia?

<p>Blue skin - cyanosis (A)</p> Signup and view all the answers

Match the type of anemia with its characteristic description:

<p>Megaloblastic Anemia = Large and oval-shaped reticulocytes Iron-Deficient Anemia = Microcytic, hypochromic red blood cells Dilutional Anemia = Rapid loss of RBCs with increased plasma volume Sickle-Cell Anemia = Presence of sickled hemoglobin with vaso-occlusion</p> Signup and view all the answers

Match the cause of polycythemia with its type:

<p>Relative Polycythemia = Loss of plasma volume Absolute Polycythemia = Increased erythropoietin due to hypoxia Polycythemia Vera = Neoplasm of blood progenitor cells Secondary Polycythemia = Response to chronic low oxygen levels</p> Signup and view all the answers

Match the vitamin or mineral with its role in RBC production:

<p>Iron = Component of hemoglobin Vitamin B12 = Essential for DNA synthesis Folate = Critical for DNA synthesis Vitamin C = Enhances iron absorption but not directly tied to RBC production</p> Signup and view all the answers

Match each symptom with the related anemia type:

<p>Cyanosis = Sickle-Cell Anemia Pale skin = Iron-Deficient Anemia Muscle weakness = General Anemia Symptoms Red skin flushing = Megaloblastic Anemia</p> Signup and view all the answers

Match the RBC lifecycle stage with its description:

<p>Reticulocytes = Immature RBCs entering circulation Mature RBC = Loses nucleus and carries oxygen Hemolysis = Destruction of old RBCs Hemoglobin accumulation = Occurs in bone marrow over one week</p> Signup and view all the answers

Match the type of anemia with its primary cause:

<p>Iron-Deficient Anemia = Chronic blood loss or inadequate intake Megaloblastic Anemia = Vitamin B12 or folic acid deficiency Dilutional Anemia = Rapid loss of RBCs exceeding plasma replacement Sickle-Cell Anemia = Genetic mutation affecting hemoglobin</p> Signup and view all the answers

Match the following conditions with their associated symptoms or characteristics:

<p>Hemophilia A = Deficiency in Factor 8 DVT = Asymmetric swelling of the leg Von Willebrand Disease = Frequent nosebleeds Factor V Leiden = Increased risk of DVT</p> Signup and view all the answers

Match the consequence of RBC destruction with its result:

<p>Jaundice = Increased bilirubin from hemolysis Anemia = Decrease in RBC count leading to oxygen deficit Increased fatigue = Result of anemia due to low oxygen capacity Hepatic impairment = Potential consequence of sustained hemolysis</p> Signup and view all the answers

Match the treatments to the corresponding conditions:

<p>Hydroxyurea = Sickle cell disease Desmopressin = Von Willebrand Disease Vitamin D and iron chelation = Thalassemia Blood transfusions = Sickle cell complications</p> Signup and view all the answers

Match the following terms with their definitions:

<p>Phagocytes = Cells that ingest old RBCs Erythropoietin = Hormone stimulating RBC production Hematocrit = Percentage of blood volume occupied by RBCs Reticulocyte count = Indicates marrow activity in RBC production</p> Signup and view all the answers

Match the terms related to hemostasis with their descriptions:

<p>Thrombus = Inappropriate clot formation Anticoagulation = Opposes clot formation Endothelial damage = Initiates hemostasis Platelet activation = Releases ADP and thromboxanes</p> Signup and view all the answers

Match the following diseases with their genetic characteristics:

<p>Thalassemia = Mutation on alpha or beta chain Hemophilia B = Deficiency in Factor 9 Von Willebrand Disease = Autosomal dominant mutation on chromosome 12 Sickle cell disease = Mutation leading to sickled red blood cells</p> Signup and view all the answers

Match the symptoms to the appropriate vascular conditions:

<p>Pulmonary Embolism = Dyspnea, tachycardia, chest pain Arterial Thrombosis = Excess platelet activation Venous Thrombosis = Dilated veins in lower leg Embolism = Clot traveling to different body area</p> Signup and view all the answers

Match each complication with its related condition:

<p>Sickle cell disease = Lung infarcts Thalassemia = Insufficient RBC production Hemophilia A = Spontaneous bleeding Thrombophilia = Unwanted clot formation</p> Signup and view all the answers

Match the following disorders with their notable features:

<p>Hemophilia A = More common in males Sickle cell disease = Acute pain and ischemia Von Willebrand Disease = Bridge between collagen and platelets DVT = Risk of a pulmonary embolism</p> Signup and view all the answers

Match the following terms with their definitions:

<p>Virchow's Triad = Factors contributing to thrombosis Hydrourea = Chemo drug for sickle cell disease Embolism = Clot traveling through the bloodstream Hemostasis = The process of blood clotting</p> Signup and view all the answers

Flashcards

RBC Lifespan

Red Blood Cells (RBCs) live for about 120 days.

Hemoglobin Structure

Hemoglobin has 4 subunits: 2 alpha and 2 beta.

RBC Production Site

RBCs are made in bone marrow.

Polycythemia

A condition with an increased number of RBCs, blood thickens too much.

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Anemia Symptoms

Symptoms include pale skin, blue skin, flushing, difficulty breathing & muscle weakness.

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Megaloblastic Anemia Cause

Caused by a deficiency in folic acid or vitamin B12.

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Iron-Deficient Anemia Cause

Most common; caused by insufficient iron, blood loss, pregnancy or neoplasia.

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Dilutional Anemia Cause

Reduced RBC concentration, not due to a decrease in RBC counts, but due to increased plasma volume.

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Sickle Cell Disease Complications

Acute pain, tissue damage (ischemia), lung infarcts, stroke, and avascular necrosis, caused by abnormal red blood cells.

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Thalassemia Cause

Inherited blood disorder causing insufficient red blood cell production (hemolysis) due to mutations in alpha or beta chains of hemoglobin.

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Hemostasis Steps

Blood clotting process initiated by endothelial damage, activating platelets & coagulation cascade; to limit blood flow and form a plug, in a process of positive feedback

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Hemostasis & Anti-Coagulation

Hemostasis promotes blood clotting, anti-coagulation opposes it, inactivating factors to prevent inappropriate clots.

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Venous Thrombosis (DVT)

Blood clot in a vein, often in the leg, causing symptoms like pain, swelling and dilated veins, leading to embolism if the clot moves to other organs.

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Hemophilia A

Bleeding disorder, deficient Factor 8 impairs blood clotting.

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Thrombophilia

Increased tendency for abnormal blood clot formation.

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Von Willebrand Disease

Bleeding disorder caused by a deficiency or defect in von Willebrand factor (vWF) making it hard to stop bleeding properly.

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What is the name for when a clot forms inappropriately?

Thrombus formation refers to the development of an inappropriate blood clot within a blood vessel, obstructing blood flow.

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What is the medical term for a clot in the lower leg?

Venous Thrombosis, commonly known as DVT, occurs when a blood clot forms in a vein, particularly in the lower leg.

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What happens when a clot travels?

When a thrombus breaks free and travels through the bloodstream, it becomes an embolism. This can cause significant complications depending on where it lodges.

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What happens when an embolism travels to the lungs?

A pulmonary embolism occurs when a blood clot travels to the lungs, disrupting oxygen and blood flow, leading to breathing difficulties and chest pain.

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What is the condition caused by a mutation in Factor V that increases DVT risk?

Factor V Leiden is a genetic mutation that increases the risk of forming blood clots, primarily DVT.

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What are the 3 factors contributing to thrombus formation?

Virchow's Triad describes the three primary contributors to thrombus formation: endothelial damage, alterations in blood flow, and hypercoagulability.

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What is the key characteristic of Hemophilia A?

Hemophilia A is a bleeding disorder caused by a deficiency in Factor VIII, a crucial clotting factor.

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What is the key difference between Hemophilia A and Hemophilia B?

While both Hemophilia A and B are bleeding disorders, Hemophilia A is due to Factor VIII deficiency, while Hemophilia B is caused by a lack of Factor IX.

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What is the role of iron in RBC production?

Iron is essential for the synthesis of hemoglobin, the protein responsible for oxygen transport in red blood cells.

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What is the role of Vitamin B12 and folate in RBC production?

Both vitamin B12 and folate are essential for DNA synthesis, which is crucial for the proper development and division of red blood cells in the bone marrow.

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Where are RBCs produced?

Red blood cells are produced in the bone marrow, a soft tissue found inside bones.

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What is the lifespan of an RBC?

Red blood cells have a lifespan of approximately 120 days, after which they are broken down and recycled.

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What happens to old RBCs?

Old red blood cells are engulfed by phagocytes, mainly in the spleen and liver. The heme portion of hemoglobin is converted into bilirubin, which is excreted in feces.

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What is polycythemia?

Polycythemia is a condition characterized by an abnormally high number of red blood cells, resulting in thicker blood and a lower plasma volume.

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What are the two main types of polycythemia?

There are two main types: relative polycythemia, caused by decreased plasma volume, and absolute polycythemia, caused by an increase in red blood cell mass.

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What is anemia?

Anemia is a condition characterized by a lower than normal number of red blood cells or decreased hemoglobin levels, resulting in reduced oxygen carrying capacity.

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What is the role of B12 and folate in RBC production?

Vitamin B12 and folic acid are vital for DNA synthesis, a process essential for the division and maturation of red blood cells. Deficiencies can lead to megaloblastic anemia, where large, immature red blood cells are produced.

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How are RBCs destroyed?

Red blood cells have a lifespan of about 120 days. When they age, they are removed from circulation by phagocytes, primarily in the spleen and liver. The heme portion of hemoglobin is broken down into bilirubin, which is then excreted in feces.

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What is the difference between relative and absolute polycythemia?

Relative polycythemia is caused by a decrease in plasma volume, making the blood appear thicker. Absolute polycythemia, on the other hand, is due to an actual increase in the production of red blood cells.

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What causes Megaloblastic Anemia?

Megaloblastic anemia is caused by a deficiency in either vitamin B12 or folic acid, essential for DNA synthesis. Without them, the body produces large, immature red blood cells, which cannot function properly.

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What is Iron-Deficient Anemia?

Iron-deficiency anemia is the most common type of anemia and is caused by a lack of iron in the body, which is essential for hemoglobin production. This results in smaller, pale red blood cells that cannot carry enough oxygen effectively.

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Sickle Cell Complications

Sickle Cell disease can lead to ischemia and tissue damage, causing acute pain. It can also cause lung infarcts, stroke, avascular necrosis, and pigment gallstones.

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Sickle Cell Treatment

Treatment for sickle cell disease involves blood transfusions to replace unhealthy red blood cells with healthy ones, and hydroxyurea, a chemotherapy drug that increases production of fetal hemoglobin, which is less likely to sickle.

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Thalassemia

Thalassemia is an inherited blood disorder caused by mutations on the alpha or beta chains of hemoglobin, leading to insufficient red blood cell production and hemolysis.

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Hemostasis

Hemostasis is the process of blood clotting. After endothelial injury, platelets are activated, releasing ADP and thromboxanes. These stimulate vasoconstriction, make platelets sticky, and activate other platelets through positive feedback. This forms a plug and triggers coagulation.

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Anti-Coagulation

Anti-coagulation opposes clot formation. It inactivates factors Xa and VIIa, which are part of the Tissue Factor Pathway secreted by endothelial cells.

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Thrombus Formation

Thrombus formation is the inappropriate formation of a blood clot within a blood vessel. It is usually caused by Virchow's Triad - endothelial damage, altered blood flow, and hypercoagulability.

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Pulmonary Embolism

A pulmonary embolism occurs when a clot travels to the lungs, leading to symptoms like dyspnea, tachycardia, pleuritic chest pain, and cough.

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Factor V Leiden

Factor V Leiden is a genetic mutation that increases the risk of DVT due to a mutated version of Factor V in the clotting cascade, which makes it less easily inactivated by Protein C.

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What are the key components for normal RBC production?

Normal RBC production requires adequate bone marrow, sufficient iron for hemoglobin synthesis, and adequate vitamin B12 and folate for DNA synthesis.

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Describe the stages of RBC development.

RBCs develop in the bone marrow over a week, accumulating hemoglobin. They enter circulation as immature reticulocytes, which mature into mature RBCs and lose their nuclei within a few days.

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What is the normal lifespan of an RBC?

Red blood cells have a lifespan of approximately 120 days.

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What is hemolysis and what does it do?

Hemolysis is the breakdown of RBCs. It plays a crucial role in regulating RBC count and maintaining normal blood volume.

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What are the two types of polycythemia and how are they different?

Polycythemia is an increase in RBC mass. Relative polycythemia is caused by a decrease in plasma volume, while absolute polycythemia is caused by an increase in RBC production.

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What are the main causes of anemia?

Anemia is a decrease in the number of RBCs or hemoglobin. It can be caused by dysfunctional RBC production, abnormal destruction, genetic abnormalities, nutritional deficiencies, chronic disease, and blood loss.

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What are the characteristic features of megaloblastic anemia?

Megaloblastic anemia is caused by vitamin B12 or folate deficiency. It results in the production of large, oval-shaped RBCs that are immature.

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Describe the key features of iron-deficient anemia.

Iron-deficient anemia is the most common type. It's caused by insufficient iron intake or loss. It leads to small, pale RBCs with reduced hemoglobin.

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Study Notes

Red Blood Cell (RBC) Production and Disorders

  • Normal RBC production requires a healthy bone marrow, iron for hemoglobin synthesis, and B12 and folate for DNA synthesis.
  • Hemoglobin, crucial for oxygen transport, comprises four subunits (2 alpha, 2 beta).
  • RBC development begins in the bone marrow, accumulating hemoglobin over a week.
  • Immature RBCs (reticulocytes) enter circulation, maturing and losing their nuclei within 1-2 days.
  • RBC lifespan is 120 days. Hemolysis (destruction) occurs in the spleen and liver, where phagocytes break down red cells.
  • Bilirubin, a byproduct of heme breakdown, is processed by the liver and excreted in the feces.
  • Jaundice results from heme breakdown exceeding removal rates.

Polycythemia

  • Polycythemia is an elevated RBC mass, characterized by a hematocrit greater than 55% and decreased plasma volume.
  • Two types:
    • Relative polycythemia: a decrease in plasma volume (e.g., from vomiting, diarrhea, excessive sweating, or diuretic use)
    • Absolute polycythemia: an increase in RBC mass due to elevated erythropoietin (EPO), a response to hypoxia. Polycythemia vera is a neoplasm of blood progenitor cells.

Anemia

  • Anemia is a decrease in RBC count, leading to reduced oxygen-carrying capacity, usually under 20%.
  • Causes include dysfunctional hematopoiesis, abnormal RBC destruction, genetic abnormalities, nutritional deficiencies (e.g., iron, B12, folate), chronic disease, and blood loss.
  • Symptoms include pale skin, cyanosis, flushing, shortness of breath, and muscle weakness.

Types of Anemia

  • Megaloblastic Anemia: RBCs are large and oval shaped, often a result of folate or vitamin B12 deficiency, or gastric atrophy in older patients.

  • Iron-Deficient Anemia: The most common type. Microcytic-hypochromic anemia, characterized by smaller, paler than normal RBCs, due to nutritional deficiencies, neoplasia, chronic GI blood loss, or pregnancy.

  • Dilutional Anemia: Rapid plasma expansion exceeds RBC production. Reduced hematocrit/hemoglobin from initial blood loss, and RBC replacement is slower than plasma replacement.

  • Sickle-Cell Anemia: Genetic disorder causing abnormal hemoglobin, leading to a sickle shape. Deoxygenation and dehydration cause vaso-occlusion, trapping sickled cells and resulting in ischemia and tissue damage with acute pain. Complications include lung infarcts, stroke, avascular necrosis, pigment gallstones, and osteomyelitis. Treatment includes blood transfusions and drugs to increase fetal hemoglobin production.

  • Thalassemia: Inherited disorder affecting alpha or beta hemoglobin chains, leading to insufficient RBC production and hemolysis. Treated with Vitamin D and iron chelation.

Hemostasis

  • Hemostasis is the process of blood clotting, initiated by exposure of blood to a damaged endothelial surface. Platelets are activated by a damaged area, releasing ADP and thromboxanes to cause vasoconstriction (limiting blood flow). Platelets become sticky and aggregate to form a plug, with more platelets activated in an amplification loop.

  • This process is regulated by clotting factors within the coagulation cascade and opposing forces represented by anti-coagulation factors.

  • In appropriate coagulation can result in thrombus formation (clots), either venous or arterial, which, if dislodged, can become an embolism.

Bleeding Disorders

  • Bleeding disorders include deficiencies in clotting factors, such as Hemophilia A (Factor VIII deficiency) and Hemophilia B (Factor IX deficiency).
  • Von Willebrand Disease is an autosomal dominant disorder involving a mutation on chromosome 12 causing a deficiency in von Willebrand factor, an essential protein for platelet function and clotting factor VIII stability. Symptoms include frequent nosebleeds and easy bruising. Treated with Desmopressin.

Thrombus Formation

  • Thrombus formation (blood clot formation inappropriately) is described as Virchow's Triad, which is a combination of altered blood flow, abnormal blood vessel wall, and altered blood constituents.
  • Venous thrombosis (DVT): Clot in a deep vein, commonly a lower leg vein, causing swelling, pain, and dilated veins. If the clot travels, it's an embolism, and if it reaches the lungs, it is a pulmonary embolism.
  • Arterial thrombosis: Results from excess platelet activation or plaque rupture.
  • Thrombophilia: A condition of having an increased risk of abnormal blood clot formation, with one example being Factor V Leiden.

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