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2013-05-01 19:30:11
Anemias Hemoglobinopathies Thalassemias

Anemias, Hemoglobinopathies, Thalassemias
Show Answers:

  1. What is the term for a decrease in RBCs and hgb resulting in decreased oxygen delivery to the tissues?
  2. What lab finding is when anemia is suspected?
    • Males: <12 g/dL
    • Females: <11 g/dL
    • RBC mass is decreased but plasma volume is normal
  3. What causes a decreased delivery of RBCs into circulation?
    • Impaired or defective production
    • Bone marrow fails to respond
    • Reticulocytopenia
  4. What causes an increased loss of RBCs from the circulation?
    • Acute bleeding
    • Accelerated destruction (hemolytic)
    • Bone marrow can respond
    • Reticulocytosis
  5. What is the most common form of anemia in the US?
    Iron deficiency anemia
  6. What clinical condition is consistent with the findings:
    Microcytic/hypochromic anemia
    Decreased serum iron, ferritin, hgb, HCT, RBC, retic
    Increased RDW, TIBC
    Iron deficiency anemia
  7. What clinical condition is consistent with the findings:
    Normocytic/normochromic anemia or slightly microcytic/hypochromic anemia
    Increased ESR
    Normal-Increased Ferritin
    Decreased serum iron and TIBC
    Inability to use available iron for hemoglobin production 
    Has an impaired release of storage iron associated with increased hepcidin levels
    Anemia of chronic disease (ACD)
  8. What cells show up when there is excess iron accumulating in the mitochondrial region of the immature erythrocyte in the bone marrow and encircles the nucleus?
    Ringed sideroblast
  9. What stain is used to see siderocytes?
    Perl's Prussian blue stain
  10. Name the 2 types of sideroblastic anemia
    • Primary: irreversible, cause of block unknown
    • Secondary: reversible, causes include alcohol, anti-tuberculosis drugs, chloramphenicol
  11. What clinical condition is consistent with the findings:
    Microcytic/hypochromic anemia
    Increase ferritin and serum iron
    TIBC decreased
    Caused by blocks in the protoporphyrin pathway resulting in defective hemoglobin synthesis and iron overload
    Sideroblastic anemia
  12. What clinical condition is consistent with the findings:
    Normocytic/normochromic anemia
    Coarse basophilic stippling
    Has multiple blocks in the protoporhyrin pathway that affects heme synthesis
    Lead poisoning
  13. What clinical condition are a group of inherited disorders characterized by a block in the protoporphyrin pathway of heme synthesis?
  14. What clinical condition is consistent with the findings:
    Macrocytic/normochromic anemia
    Oval macrocytes and tear drop cells
    Hypersegmented neutrophils
    Inclusions of Howell Jolly, NRBCs, basophilic stippling, pappenheimer bodies, and cabot rings
    Increased LD, bilirubin, and iron
    Megaloblastic cells in blood and bone marrow
    Defective DNA synthesis that causes abnormal nuclear maturation and the nucleus matures slower than the cytoplasm (asynchronism)
    Megloblastic anemia
  15. Name the causes of of megaloblastic anemias
    • Vitamin B12 deficiency
    • Folic acid deficiency
  16. What clinical condition is caused by deficiency of intrinsic factor, antibodies to intrinsic factor, or antibodies to parietal cells?
    Pernicious anemia
  17. What are the causes of vitamin B12 deficiency?
    • Malabsorption syndromes
    • Diphyllobothrium latum tapworm
    • Total gastrectomy
    • Intestinal blind loops
    • Total vegetarian diet
  18. What are the causes of folic acid deficiency?
    • Poor diet
    • Pregnancy
    • Chemotherapeutic anti-folic acid drugs such as methotrexate
  19. Name what is included in non-megaloblastic macrocytic anemias
    • Alcoholism
    • Liver disease
    • Conditions that cause accelerated erythropoiesis
  20. What clinical condition:
    Bone marrow failure causes pancytopenia
    Labs: Decreased H&H and retics, normocytic/normochromic
    No response to erythropoietin
    Aplastic Anemia
  21. What is the name of the genetic aplastic anemia, that is an autosomal recessive trait?
    Fanconi anemia
  22. What clinical condition is a true red cell aplasia (WBCs and plts are normal)?
    Diamond-Blackfan anemia
  23. What clinical condition:
    Hypoproliferative anemia caused by replaement of bone marrow hematopoietic cells by malignant cells or fibrotic tissue
    Labs: Normocytic/normochromic, leukoerythroblastic blood picture
    Myelophthisic (marrow replacement) anemia
  24. What clinical condition:
    Sudden blood loss
    Normocytic/normochromic anemia
    Initially normal retic and H&H, then in a couple of hours drop in H&H, increase in plts, leukocytosis with left shift
    Reticulocytosis in 3-5 days
    Acute blood loss anemia
  25. What clinical condition:
    Gradual long-term loss of blood
    Initially normocytic/normochromic, that over time causes a decrease in H&H
    Gradual loss of iron, causing microcytic/hypochromic anemia
    Chronic blood loss anemia
  26. What clinical condition is:
    The most common membrane defect of RBCs
    Is due to increased permeability of the membrane to sodium
    Had decreased surface area to volume ratio Caused by a mebrane defect due to abnormal permeability to both Na and K - causing RBCs to swell
    Increased osmotic fragility
    Increased serum bilirubin
    Hereditary spherocytosis
  27. What clinical condition has an increased cholesterol:lecithin ratio in the membrane due to abnormal plasma lipid concentrations?
    Hereditary acanthocytosis (abetalipoproteinemia)
  28. What clinical condition:
    Sex linked enzyme deficiency
    Most common enzyme deficiency in the hexose monophosphate shunt
    Result in oxidation of hemoglobin to methemoglobin (Fe3+)
    Denatures to form Heinz bodies
    G6PD (glucose-6-phosphate dehydrogenase) deficiency
  29. What clinical condition:
    The most common enzyme deficiency in Embden-Meyerhof pathway
    Severe hemolytic anemia with retics and echinocytes
    Pyruvate kinase (PK) deficiency
  30. What clinical condition:
    Is an acquired membrane defect in which the RBC membrane has an increased sensitivity for complement binding as compared to normal RBCs
    Chronic intravascular hemolysis causes hemoglobinuria and hemosiderinuria at an acid pH at night
    Low LAP score
    Ham's and sugar water tests used in diagnosis
    Increased incidence of acute leukemia
    Paroxysmal nocturnal hemoglobinuria (PNH)
  31. What clinical condition:
    Have RBCs costed with IgG and/or complement
    Labs: Spherocytes, increased osmotic fragility, increased bilirubin, increased retic, occasional NRBC, DAT POS
    Warm autoimmune hemolytic anemia
  32. What clinical condition:
    Have RBCs coated with IgM and complement at temps below 37 degrees celcius
    Labs: Seasonal symptoms, RBC clumping can be seen micro-and macroscopically, MCHC >37 g/dL, increased bilirubin, increased retic, DAT Positive
    Cold autoimmune hemolytic anemia
  33. What clinical condition has:
    An IgG biphasic Donath-Landsteiner antibody with P specificity fixes complement to RBCs in the cold
    Complement coated RBCs lyse when warmed to 37 degrees celcius
    Increased bilirubin and hemoglobin
    Decreased haptoglobin
    Donath-Lansteinter positive
    Paroxysmal cold hemoglobinuria (PCH)
  34. What clinical condition is:
    ABO incompatibility causes an immediate reaction with massive intravascular hemolysis that is complement coated
    Usually IgM antibodies
    Can trigger DIC due to release of tissue factro from the lysed RBCs
    DAT positive
    Increase hemoglobin
    Hemolytic transfusion reaction
  35. What clinical condition:
    May be due to Rh incompatibility (erythroblastosis fetalis)
    - Severe anemia, NRBCs, DAT positive,
    - Increased bilirubin that causes kernicterus leading to brain damage
    May be due to ABO incompatibility
    - Group O women develops IgG antibody that crosses the placenta and coats fetal RBCs when fetus is group A or B
    - Mild or no anemia, few spherocytes
    Hemolytic disease of the newborn (HDN)
  36. What clinical condition is:
    Systemic clotting is initiated by activation of the coagulation cascade due to toxins or conditions that trigger release of procoagulants
    Multiple organ failure can occur due to clotting
    Fibrin is deposited in small vessels, causing RBC fragmentation
    DIC (disseminated intravascular coagulation)
  37. What clinical condition:
    Occurs most often in children following a gastrointestinal infection
    Clots form, causing renal damage
    Hemolytic uremic syndrome (HUS)
  38. What clinical condition:
    Likely due to a deficiency of the enzyme ADAMTS 13 that is responsible for breaking down large von Willebrand factor multimers
    When multimers are not broken down, clots form, causing RBC fragmentation (schistocytes) and CNS impairment
    TTP (thrombotic thrombocytopenic purpura)
  39. Name the most common (in order) amino acid subsitutions disorders
    • Hgb S (most common)
    • Hgb C
    • Hgb E
  40. What clinical condition:
    Caused when valine replaces glutamic acid at position 6 of both beta chains
    No Hgb A produced
    Causes tissue necrosis
    All organs affected - kidney failure is the most common
    Vaso-occlusive crisis occurs with increased bone marrow response to the hemolytic anemia
    Severe normochromic/normocytic anemia
    Polychromasia (result of retics), Sickle cells, target cells, NRBCs, pappenheimer bodies, howell-jolly bodies
    M:E ratio decreases
    Increased bilirubin
    Decreased haptoglobin
    Sickle Cell Disease (Hgb SS)
  41. What is the amino acid substitution for Sickle cell?
    Valine replaces glutamic acid at position 6 of both or one (sickle cell trait) beta chains
  42. What clinical condition is caused when valine replaces glutamic acid at position 6 on one beta chain?
    Sickle cell trait (Hgb AS)
  43. What clinical condition:
    Caused when lysine replaces glutamic acid at position 6 on both beta chains
    No Hgb A produced
    Normochromic/normocytic anemia with target cells
    Characterized by intracellular rodlike C crystals
    Hgb C Disease (Hgb CC)
  44. What is the amino acid substitution of Hgb C Disease?
    Lysine replaces glutamic acid at position 6 of both beta chains
  45. What clinical condition:
    Is a double heterozygous condition where abnormal sickle gene from one parent and an abnormal C gene from the other parent is inherited
    Moderate to severe normocytic/normochromic anemia
    Target cells, charcteristic SC crystals, rare sickle cells or C crystals
    Positive hemoglobin solubility screening test
    Hgb SC Disease
  46. What clinical condition is caused when lysine replaces glutamic acid at position 26 on the beta chain?
    Hgb E
  47. What clinical condition is caused when glycine replaces glutamic acid at position 121 on the beta chain?
    Hgb D
  48. What types of conditions are included in Thalassemia major?
    • Severe anemia
    • Either no alpha or no beta chains produced
  49. What types of conditions are included in Thalassemia minor/trait?
    • Mild anemia
    • Sufficient alpha and beta chains produced to make normal hemoglobins A, A2, and F but may be in abnormal amounts
  50. What clinical condition:
    Markedly decreased rate of synthesis or absence of both beta chains results in excess of alpha chains
    No Hgb A can be produced
    Compensate with up to 90% Hgb F
    Severe microcytic/hypochromic anemia
    Target cells, many NRBCs, basophilic stippling, howell-jolly bodies, pappenheimer bodies, heinz bodies
    Increased serum iron and bilirubin
    Beta Thalassemia Major/homozygous (Cooley anemia)
  51. What clinical condition:
    Decreased rate of synthesis of one of the beta chains, other beta chain is normal
    Mild microcytic/hypochromic anemia
    Normal or slightly increased RBC count
    Target cells, basophilic stippling
    Hgb A is slightly decreased, but Hgb A2 is slightly increased to compensate
    Beta Thalassemia Minor/heterozygous
  52. What clinical condition:
    All 4 alpha chains are deleted
    No normal hemoglobins are produced
    80% hemoglobin Bart's (gamms4) produced
    Cannot carry oxygen
    Incompatible with life
    Die in utero or shortly after birth
    Alpha Thalassemia Major (hydrops fetalis)
  53. What clinical condition:
    3 alpha chains are deleted - leads beta chain excess
    Hemoglobin H (beta4) - an unstable hemoglobin is produced
    Moderate microcytic/hypochromic anemia
    Heinz bodies form and are destroyed in the spleen
    Hgb H disease
  54. What clinical condition:
    2 Alpha chains are deleted
    Patients are usually asympomtatic and discovered accidently
    Up to 6% Hgb Bart's in newborns
    Mild microcytic/hypochromic anemia
    Hight RBC count
    Target cells
    Alpha Thalassemia Minor/trait