anemia ppt test 6 clin med
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Questions and Answers

What is the primary function of hemoglobin in red blood cells?

  • To carry oxygen from lungs to tissues and organs (correct)
  • To stimulate bone marrow to produce platelets
  • To remove CO2 from tissues
  • To increase white blood cell production

    • Which of the following is NOT a general cause of anemia?

  • Destruction of red blood cells
  • Increased needs
  • Vitamin deficiency
  • Overproduction of bone marrow (correct)

    • What is the estimated number of people suffering from anemia worldwide?

  • 1.5 billion
  • 2.5 billion (correct)
  • 4.5 billion
  • 3.5 billion

    • Which of the following is a common risk factor for anemia?

    <p>Having a poor diet</p> Signup and view all the answers

    What is the name of the protein that carries oxygen from the lungs to tissues and organs?

    <p>Hemoglobin</p> Signup and view all the answers

    In which part of the body are red blood cells, white blood cells, and platelets produced?

    <p>Bone marrow</p> Signup and view all the answers

    What is the most common type of white blood cell?

    <p>Neutrophil</p> Signup and view all the answers

    Which of the following is a possible consequence of anemia?

    <p>Less ability to remove CO2 from tissues</p> Signup and view all the answers

    What is the first step in the lab evaluation of anemia?

    <p>Start with a complete blood count (CBC)</p> Signup and view all the answers

    Which of the following is a type of anemia caused by a lack of iron?

    <p>Iron-deficiency anemia</p> Signup and view all the answers

    What is Hematocrit (Hct) in the context of blood?

    <p>The ratio of the volume of red blood cells to the total volume of blood</p> Signup and view all the answers

    What is the primary cause of a decreased Red Cell Distribution Width (RDW)?

    <p>Very little variation in size of RBCs</p> Signup and view all the answers

    What is the primary characteristic of Microcytic anemia?

    <p>Small RBCs</p> Signup and view all the answers

    Which of the following is a cause of Megaloblastic anemia?

    <p>All of the above</p> Signup and view all the answers

    What is the primary function of Vitamin B12 in the body?

    <p>Maintenance of neurological health</p> Signup and view all the answers

    What is the primary difference between B12 deficiency and folate deficiency?

    <p>Homocysteine levels are high in folate deficiency</p> Signup and view all the answers

    What is the primary purpose of iron studies in anemia?

    <p>To diagnose iron deficiency anemia</p> Signup and view all the answers

    What is the primary function of transferrin in the body?

    <p>To bind with iron in the blood</p> Signup and view all the answers

    What is the primary meaning of a low ferritin level?

    <p>Iron deficiency</p> Signup and view all the answers

    What is the primary purpose of checking methylmalonic acid (MMA) levels in anemia?

    <p>To diagnose Vitamin B12 deficiency</p> Signup and view all the answers

    What is the primary function of a reticulocyte count?

    <p>To check if the bone marrow is producing the right amount of red blood cells</p> Signup and view all the answers

    What is the primary cause of megaloblastic anemia?

    <p>Folic acid deficiency</p> Signup and view all the answers

    What is the significance of a low haptoglobin level?

    <p>It indicates hemolytic anemia</p> Signup and view all the answers

    What is the primary function of the Coombs test?

    <p>To diagnose autoimmune hemolytic anemia</p> Signup and view all the answers

    What is the significance of a high LDH level in the blood?

    <p>All of the above</p> Signup and view all the answers

    What is the primary function of serum ferritin?

    <p>To determine if a person has an iron deficiency or not</p> Signup and view all the answers

    What is the primary cause of anemia in elderly people with iron deficiency?

    <p>Colon cancer</p> Signup and view all the answers

    What is the primary treatment for iron deficiency anemia?

    <p>Oral iron supplements</p> Signup and view all the answers

    What is the primary purpose of checking for signs of anemia in a patient?

    <p>To determine if the anemia is severe or not</p> Signup and view all the answers

    What is the primary approach to diagnosing anemia?

    <p>Check for obvious signs of anemia</p> Signup and view all the answers

    What is the primary function of hemoglobin inside red blood cells?

    <p>To carry oxygen from the lungs to tissues and organs in the body and carry carbon dioxide back to the lungs</p> Signup and view all the answers

    What is the primary site of blood production in adults?

    <p>Bone marrow of bones</p> Signup and view all the answers

    Which of the following is a common risk factor for anemia?

    <p>Having a poor diet</p> Signup and view all the answers

    What is the effect of anemia on the body's ability to deliver oxygen to tissues?

    <p>Less ability to deliver oxygen</p> Signup and view all the answers

    What is the primary cause of anemia in people with iron deficiency?

    <p>Lack of iron</p> Signup and view all the answers

    Which of the following is a type of white blood cell?

    <p>Lymphocyte</p> Signup and view all the answers

    What is the effect of anemia on the body's ability to remove CO2 from tissues?

    <p>Less ability to remove CO2</p> Signup and view all the answers

    Which of the following is a general cause of anemia?

    <p>Bleeding</p> Signup and view all the answers

    What is the prevalence of anemia in the world's population?

    <p>30%</p> Signup and view all the answers

    Which of the following is a type of anemia caused by a lack of nutrients or vitamins?

    <p>All of the above</p> Signup and view all the answers

    What is the primary reason for a decrease in Red Cell Distribution Width (RDW) in anemia?

    <p>Very little variation in size of RBCs</p> Signup and view all the answers

    What is the primary difference between Microcytic and Megaloblastic anemia?

    <p>Size of RBCs</p> Signup and view all the answers

    What is the primary cause of Spurious Megaloblastic anemia?

    <p>Cells sticking together</p> Signup and view all the answers

    What is the primary treatment for Vitamin B12 deficiency in patients with intrinsic factor deficiency?

    <p>Intramuscular Vitamin B12 injections</p> Signup and view all the answers

    What is the primary purpose of checking Homocysteine levels in anemia?

    <p>To differentiate between Vitamin B12 and folate deficiency</p> Signup and view all the answers

    What is the primary meaning of a high Transferrin saturation level?

    <p>Iron overload</p> Signup and view all the answers

    What is the primary function of Ferritin in the body?

    <p>To store iron</p> Signup and view all the answers

    What is the primary reason for checking Total Iron Binding Capacity (TIBC) in anemia?

    <p>To diagnose iron deficiency</p> Signup and view all the answers

    What is the primary difference in the treatment of Megaloblastic anemia caused by Vitamin B12 deficiency versus folate deficiency?

    <p>Type of medication</p> Signup and view all the answers

    What is the primary reason for checking Methylmalonic acid (MMA) levels in anemia?

    <p>To diagnose Vitamin B12 deficiency</p> Signup and view all the answers

    What is the primary reason for conducting iron studies in anemia?

    <p>To determine the body's iron stores and saturation</p> Signup and view all the answers

    What is the implication of a high serum ferritin level in a patient with anemia?

    <p>The patient is not iron deficient</p> Signup and view all the answers

    What is the primary difference between iron deficiency anemia and B12 deficiency anemia?

    <p>B12 deficiency anemia is characterized by larger red blood cells</p> Signup and view all the answers

    What is the significance of a low haptoglobin level in a patient with anemia?

    <p>The patient has hemolytic anemia</p> Signup and view all the answers

    What is the primary purpose of the Coombs test in anemia?

    <p>To determine the presence of autoimmune hemolytic anemia</p> Signup and view all the answers

    What is the implication of a high LDH level in a patient with anemia?

    <p>The patient has hemolytic anemia or tissue damage</p> Signup and view all the answers

    What is the primary cause of anemia in elderly people with iron deficiency?

    <p>Colon cancer</p> Signup and view all the answers

    What is the primary approach to diagnosing anemia in a patient?

    <p>Check for signs of anemia and then investigate the cause</p> Signup and view all the answers

    What is the significance of a reticulocyte count in anemia?

    <p>It determines the body's production of red blood cells</p> Signup and view all the answers

    What is the primary treatment for iron deficiency anemia?

    <p>Oral iron supplementation</p> Signup and view all the answers

    What is the primary component of healthy clotting that is responsible for adhering to the site of vascular injury?

    <p>Von Willebrand Factor (vWF)</p> Signup and view all the answers

    What is the term for the formation of a clot that persists in an unbroken vessel?

    <p>Thrombus</p> Signup and view all the answers

    What is the primary cause of hypercoagulability in patients with cancer?

    <p>Reactive disorder</p> Signup and view all the answers

    What is the term for the movement of a clot that is freely moving in the bloodstream and can get stuck in a vessel over time?

    <p>Embolus</p> Signup and view all the answers

    What is the primary cause of stasis in patients with polycythemia or leukostasis?

    <p>High hematocrit or elevated WBCs</p> Signup and view all the answers

    What is the term for the combination of stasis, hypercoagulability, and vascular injury that contributes to clot formation?

    <p>Virchow's triad</p> Signup and view all the answers

    What is the primary sign of bleeding too much?

    <p>Increased/prolonged menstrual bleeding</p> Signup and view all the answers

    What is the primary cause of vascular injury in patients with atherosclerosis?

    <p>Vascular disease</p> Signup and view all the answers

    What is the primary purpose of the Mixing Study in coagulation disorders?

    <p>To determine the presence of a clotting factor deficiency or inhibitor</p> Signup and view all the answers

    What is the implication of a high D-Dimer level in a patient?

    <p>The patient has a clot somewhere in the body</p> Signup and view all the answers

    What is the primary characteristic of Polycythemia Vera?

    <p>An increase in red blood cell production</p> Signup and view all the answers

    What is the significance of a low ATIII level in a patient?

    <p>The patient is experiencing clot formation</p> Signup and view all the answers

    What is the primary treatment for Polycythemia Vera?

    <p>Phlebotomy and aspirin</p> Signup and view all the answers

    What is the implication of a prolonged aPTT in a patient?

    <p>The patient has a clotting factor deficiency</p> Signup and view all the answers

    What is the primary function of Factor V in the coagulation cascade?

    <p>To act as a cofactor for factor X</p> Signup and view all the answers

    What is the primary characteristic of Thrombocytosis?

    <p>An increase in platelet production</p> Signup and view all the answers

    What is the primary effect of the mutation in Factor V Leiden?

    <p>Removal of the cleavage site used by activated Protein C</p> Signup and view all the answers

    What is the risk of a first VTE in compound heterozygotes with G20210A and FVL?

    <p>20</p> Signup and view all the answers

    What is the primary function of Protein C?

    <p>To inactivate Factor V and Factor VIII</p> Signup and view all the answers

    What is the classification of a DVT that is below the knee and past the popliteal vein?

    <p>Distal DVT</p> Signup and view all the answers

    What is the next step in the evaluation of a patient with a low probability of DVT and a positive d-dimer?

    <p>Obtain an ultrasound</p> Signup and view all the answers

    What is the primary difference in the treatment of proximal and distal DVTs?

    <p>Proximal DVTs require long-term anticoagulation, while distal DVTs do not</p> Signup and view all the answers

    What is the primary purpose of the PERC rule?

    <p>To rule out pulmonary embolism in patients with low probability</p> Signup and view all the answers

    What is the next step in the evaluation of a patient with low or intermediate risk of pulmonary embolism and a positive PERC rule?

    <p>Send a d-dimer</p> Signup and view all the answers

    What is the primary indication for considering systemic lytic therapy or catheter-directed thrombolysis in patients with pulmonary embolism?

    <p>Severe presentation of PE</p> Signup and view all the answers

    What is the recommended duration of anticoagulation therapy for patients with unprovoked PE?

    <p>Long-term anticoagulation</p> Signup and view all the answers

    What is the primary purpose of ordering troponin values in patients with pulmonary embolism?

    <p>To evaluate right heart strain</p> Signup and view all the answers

    What is the primary indication for using IVC filters in patients with pulmonary embolism?

    <p>Patients who cannot tolerate anticoagulation</p> Signup and view all the answers

    What is the primary risk factor for VTE in hospitalized patients?

    <p>All of the above</p> Signup and view all the answers

    What is the primary mechanism of Heparin-Induced Thrombocytopenia (HIT)?

    <p>Antibodies that form to heparin-platelet complex and cause platelet aggregation</p> Signup and view all the answers

    What is the primary criterion for diagnosing Vaccine-Induced Thrombotic Thrombocytopenia (VITT)?

    <p>All of the above</p> Signup and view all the answers

    What is the primary recommendation for patients with suspected VITT?

    <p>Perform immediate CBC with platelet count and imaging for thrombosis</p> Signup and view all the answers

    What is the primary approach to diagnosing VITT?

    <p>Draw blood prior to any therapies for PF4-ELISA</p> Signup and view all the answers

    What is a common finding in patients with HHC?

    <p>Hyperpigmentation and liver cirrhosis</p> Signup and view all the answers

    What is the estimated percentage of affected males who develop cirrhosis due to iron overload?

    <p>10%</p> Signup and view all the answers

    What is a characteristic radiologic finding in HHC arthropathy?

    <p>Squared-off bone ends in the MCP joints</p> Signup and view all the answers

    What is the primary treatment for hemochromatosis?

    <p>Phlebotomy</p> Signup and view all the answers

    What is the amount of iron contained in 500mL of whole blood?

    <p>200-250mg</p> Signup and view all the answers

    What is the primary endocrine abnormality in hemochromatosis?

    <p>Hypogonadism</p> Signup and view all the answers

    What is the goal of treatment in hemochromatosis?

    <p>Achieve ferritin levels</p> Signup and view all the answers

    What is the primary function of the quaternary structure of hemoglobin in red blood cells?

    <p>To carry oxygen for transport within red blood cells</p> Signup and view all the answers

    What is the characteristic of hemoglobin A2?

    <p>It has two alpha and two delta chains</p> Signup and view all the answers

    What is the primary cause of thalassemia?

    <p>Mutations that alter beta globin chains</p> Signup and view all the answers

    What is the result of a production problem in anemia?

    <p>Marrow not producing red blood cells</p> Signup and view all the answers

    What is the significance of elevated LDH, AST, and bilirubin levels in anemia?

    <p>Indicates hemolysis</p> Signup and view all the answers

    What is the significance of a low haptoglobin level in anemia?

    <p>Indicates hemolysis</p> Signup and view all the answers

    What is the primary difference between alpha and beta thalassemia?

    <p>Alpha thalassemia is caused by deficient alpha chains</p> Signup and view all the answers

    What is the primary function of the tetramer structure of hemoglobin?

    <p>To carry four oxygen molecules</p> Signup and view all the answers

    What is the result of hemolysis in anemia?

    <p>Red blood cells breaking down</p> Signup and view all the answers

    What is the primary characteristic of hemoglobin A?

    <p>It has two alpha and two beta chains</p> Signup and view all the answers

    What is the recommended dose of morphine for an opioid-experienced patient weighing over 50kg?

    <p>5-10mg IV</p> Signup and view all the answers

    What is the purpose of transfusing leukoreduced RBCs in a patient with hemoglobin S disease?

    <p>To increase oxygenation</p> Signup and view all the answers

    How much will 10ml/kg of leukoreduced RBCs typically raise the hemoglobin level?

    <p>2gm/dl</p> Signup and view all the answers

    What is the goal of partial exchange transfusion in a patient with hemoglobin S disease?

    <p>To decrease hyperviscosity</p> Signup and view all the answers

    How much will one unit of PRBCs decrease the hemoglobin S level?

    <p>30%</p> Signup and view all the answers

    What is the recommended rate of transfusion in a patient with severe anemia to avoid volume overload?

    <p>1 unit over 3-4 hours</p> Signup and view all the answers

    What is the benefit of phlebotomizing 500ml of blood before transfusing 2 units of PRBCs?

    <p>Decreases iron burden</p> Signup and view all the answers

    What is the primary mechanism by which sickle cells adhere to the endothelium?

    <p>Interaction between VLA-4 and VCAM-1</p> Signup and view all the answers

    What is the effect of hypoxia on nitric oxide in patients with sickle cell disease?

    <p>Decreases nitric oxide availability</p> Signup and view all the answers

    What is the goal of transfusion in a patient with hemoglobin S disease?

    <p>To increase oxygenation</p> Signup and view all the answers

    What is the recommended target hematocrit level in a patient with hemoglobin S disease on chronic transfusion?

    <p>35%</p> Signup and view all the answers

    What is the primary reason for the formation of a gel-like substance containing Hb crystals in deoxygenated conditions?

    <p>Marked decrease in solubility and increased viscosity of Hb</p> Signup and view all the answers

    What is the primary function of the spleen in patients with sickle cell disease?

    <p>To create lymphocytes for the destruction and recycling of old RBCs</p> Signup and view all the answers

    What is the effect of increasing hematocrit level above 30% in a patient with hemoglobin S disease?

    <p>Creates hyperviscosity</p> Signup and view all the answers

    What is the primary consequence of recurrent sickling in patients with sickle cell disease?

    <p>Irreversibly sickled RBCs</p> Signup and view all the answers

    What is the primary mechanism by which free Hb contributes to vasoconstriction in sickle cell disease?

    <p>By decreasing nitric oxide availability</p> Signup and view all the answers

    What is the primary characteristic of sickle cells that makes them sticky?

    <p>Expression of VLA-4 on the surface</p> Signup and view all the answers

    What is the primary cause of avascular necrosis in patients with sickle cell disease?

    <p>Vaso-occlusive crisis</p> Signup and view all the answers

    What is the primary effect of hydroxyurea on the spleen in patients with sickle cell disease?

    <p>Preserves the function of the spleen</p> Signup and view all the answers

    What is the primary consequence of hemolysis in patients with sickle cell disease?

    <p>Increased levels of LDH</p> Signup and view all the answers

    What is the primary reason for the development of hepatosplenomegaly in patients with Beta Thalassemia Major?

    <p>Hemolysis and anemia driving increased EPO and bone marrow hyperplasia</p> Signup and view all the answers

    What is the characteristic of Hemoglobin H disease?

    <p>Presence of beta 4 tetramers</p> Signup and view all the answers

    Why do patients with Sickle Cell Disease have a protective effect against malaria?

    <p>Sickled cells halt the infestation of malaria</p> Signup and view all the answers

    What is the primary reason for the requirement of transfusion support in patients with Beta Thalassemia Major?

    <p>Hemolysis and anemia due to incorrect synthesis of HbA</p> Signup and view all the answers

    What is the characteristic of Alpha Thalassemia Trait?

    <p>Mild anemia with microcytosis</p> Signup and view all the answers

    What is the primary cause of anemia in patients with Beta Thalassemia?

    <p>Excess production of other chains hindering normal RBC production</p> Signup and view all the answers

    What is the term for the process that leads to many of the complications of Sickle Cell Disease?

    <p>Vaso-occlusion</p> Signup and view all the answers

    What is the primary difference between HbSS and HbSb0 thalassemia?

    <p>HbSS has a more severe anemia than HbSb0</p> Signup and view all the answers

    Why do patients with Beta Thalassemia require annual MRI to check liver iron?

    <p>To monitor for liver iron overload</p> Signup and view all the answers

    What is the primary goal of treatment in Beta Thalassemia?

    <p>To manage symptoms and improve quality of life</p> Signup and view all the answers

    Study Notes

    Anemia

    • Definition: Decreased red blood cells, leading to decreased oxygen delivery and increased CO2 levels
    • Causes: Bleeding, underproduction, bone marrow issues, lack of nutrients/vitamins, immune destruction, hemolysis, increased needs (pregnancy, medications)

    Epidemiology of Anemia

    • 30% of the world's population (approx. 2.5 billion people) has anemia
    • Iron deficiency makes up about 1 billion people, especially prevalent in lower-income regions (sub-Saharan Africa, South Asia, Caribbean)
    • In the USA, approximately 3 million people suffer from anemia

    Blood Production

    • In adults, blood is made in the bone marrow of bones
    • Bone marrow also makes White Blood cells and Platelets
    • White blood cells, in order from most common to least common: Neutrophil, Lymphocytes, Monocytes, Eosinophil, Basophil

    Risk Factors for Anemia

    • Being a menstruating woman
    • Having a poor diet
    • Having an autoimmune or inflammatory disease
    • Having an infection
    • Having cancer
    • Having liver or endocrine disease
    • Having kidney disease
    • Having a chronic disease of any type

    Lab Evaluation for Anemia

    • Start with a Complete Blood Count (CBC)
    • Hemoglobin (Hb): protein inside red blood cells that carries oxygen
    • Hematocrit (Hct): ratio of the volume of red blood cells to the total volume of blood
    • MCV (Mean Corpuscular Volume): measurement of Red Blood Cell Volume (size of RBC)
    • RDW: red cell distribution width
    • Increase in RDW = variation in size of RBC, which is a normal finding
    • Decrease in RDW = very little variation in size, which could be due to anemia (macrocytic anemia)

    Classification of Anemias

    • Classified based on MCV (size of the cell)
    • Microcytic (small) = MCV < 80
    • Normocytic (normal) = MCV 80-100
    • Macrocytic (large) = MCV > 100
    • Megaloblastic (extra large) = MCV > 110

    Causes of Microcytic Anemia (MCV < 80)

    • Iron deficiency
    • Thalassemia
    • Sideroblastic anemia
    • Anemia of chronic disease

    Causes of Megaloblastic Anemia (MCV > 110)

    • Folic acid deficiency
    • B12 deficiency
    • Spurious Megaloblastic anemia (cells sticking together and machine reading them as one)

    Treatment of B12 Deficiency

    • B12 comes from animal products (meats…)
    • Needed for neurological health
    • Lack of B12 over long periods can lead to vibratory sensation loss, psychosis, and is not usually reversible once it happens
    • If vegetarian, can try B12 supplements by mouth
    • If unable to absorb B12 (Intrinsic factor deficiency), must receive medication IM FOR LIFE!!!### Lab Tests for Bleeding Disorders
    • CBC – Platelet count and mean platelet volume (MPV)
    • PFA (Platelet Function Analysis)
    • Partial thromboplastin time (aPTT) – if prolonged, indicates issue with clotting factors or vWF
    • Prothrombin time (PT) – if prolonged, indicates issue with clotting factors
    • Liver Function Tests – for hepatic causes
    • Platelet Antibody Studies, Factor Levels
    • Heparin-Induced Thrombocytopenia (HIT) Assay

    Disorders that Predispose to Clotting

    • Thrombocytosis
    • Polycythemia Vera
    • Factor V Leiden
    • Prothrombin Thrombophilia
    • Antiphospholipid Syndrome
    • Heparin-Induced Thrombocytopenia

    Polycythemia Vera

    • Myeloproliferative disorder characterized by increased RBCs, WBCs, and platelets
    • Causes hyperviscosity, leading to sludge in the pipes
    • Symptoms: headaches, hearing and vision changes, difficulty concentrating, itching/pain, night sweats, weight loss, flushing, cyanosis
    • Physical Exam Findings: hypertension, redness or cyanosis of the skin from venous stasis, splenomegaly, signs/symptoms of DVTs, PE
    • Lab Findings: elevated counts – WBCs, RBCs, platelets, decreased iron stores (iron, ferritin)
    • WHO Criteria: all major criteria or the first 2 + minor

    Factor V Leiden

    • Cofactor for factor X
    • One of the most common inherited causes of hypercoagulability
    • Results from a single point mutation that causes resistance to Protein C
    • Inherited in an autosomal dominant pattern
    • Associated with placental abruption in pregnancy

    Other Thrombophilias

    • Prothrombin G20210A Mutation
    • Protein C and Protein S Deficiencies
    • Compound Heterozygotes – G20210A + FVL

    DVT and PE

    • Presentation: SOB, chest pain, cough, bloody sputum, pleuritic pain, shock/sudden death
    • Testing: PERC – Pulmonary Embolism Rule-Out Criteria
    • Diagnosis: IF low or intermediate risk but PERC+, send a d-dimer. If the d-dimer is positive, recommend imaging.
    • Categories: low-risk, submassive, massive
    • Treatment: anticoagulation, possible thrombolysis for massive PE

    Prophylaxis and Thrombophilias

    • IVC Filters
    • DVT Prophylaxis: consider in patients with high risk of VTE, weighed against their bleeding risk
    • Thrombophilias: test only if it will change treatment plan

    Heparin-Induced Thrombocytopenia

    • Caused by antibodies that form to heparin-platelet complex
    • STOP heparin if this happens!
    • Use alternative anticoagulation!

    Vaccine Induced Thrombotic Thrombocytopenia (VITT)

    • Diagnosis: must meet all 5 criteria
    • Treatment: initiate therapy with non-heparin anticoagulation pending PF4 ELISA### Anemia and Thalassemia
    • Anemia: too few circulating red blood cells or too little hemoglobin, resulting in decreased oxygen carrying capacity
    • Three main categories of anemia:
      • B: Bleeding Acutely (e.g. trauma or GI bleed)
      • P: Production Problem (marrow not producing)
      • H: Hemolysis (red cell breakdown)

    Hemoglobin Structure

    • Hemoglobin is the workhorse of RBCs, carrying oxygen for transport
    • Hemoglobin A is a tetramer, consisting of two alpha (α) and two beta (β) chains
    • Each chain has a heme group, allowing each hemoglobin to carry four oxygen molecules

    Thalassemia

    • Decreased mean corpuscular volume (MCV)
    • Caused by mutations that alter beta globin chains
    • Alpha thalassemias: deficient α chains (found later in life, not in newborns)
    • More common in Southeast Asian, Indian, Southern Chinese, Middle Eastern, and African descent

    Sickle Cell Disease

    • Caused by mutations in the beta globin chain gene
    • HbS: when valine replaces glutamic acid at Beta 6
    • HbC: when lysine replaces glutamic acid at Beta 6
    • Sickling begins when Hb S is exposed to deoxygenation, leading to irreversibly sickled RBCs

    Pathophysiology of Sickle Cell Disease

    • Sickled RBCs have a lifespan of 10-20 days, compared to 120 days for normal RBCs
    • Spleen is responsible for destroying and recycling old RBCs
    • Early use of hydroxyurea preserves spleen function

    Sickle Cell Anemia

    • Caused by beta globin mutations
    • HbS and HbC are the most common mutations
    • Sickling leads to vaso-occlusion, pain crisis, and other complications

    Sickle Cell Complications

    • Vaso-occlusive pain crisis
    • Splenic sequestration
    • Infections
    • Stroke and central nervous system damage
    • Acute chest syndrome
    • Pulmonary hypertension
    • Priapism
    • Bone and joint damage (avascular necrosis)
    • Leg ulcers
    • Gall bladder and liver disease
    • Renal disease
    • Thrombosis
    • Eye disease

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