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Hematology & Oncology > Anemias > Flashcards

Anemias Flashcards

1
Q

What are the Microcytic anemias?

A
  • Iron def
  • ACD
  • Thalassemias
  • Lead poisoning
  • Sideroblastic anemia
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2
Q

What are the Normocytic Nonhemolytic anemias?

A
  • Anemia of chronic dz
  • Aplastic anemia
  • Chronic kidney dz
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3
Q

What are the Normocytic Intrinsic hemolytic anemias?

A
  • Hereditary spherocytosis (RBC mem defect)
  • G6PD, PK (RBC enzyme def)
  • HbC
  • Sickle cell anemia
  • Paroxysmal nocturnal hemoglobinuria
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4
Q

What are the Macrocytic Megaloblastic anemias?

A
  • Folate def
  • B12 def
  • Orotic aciduria
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5
Q

What are the Macrocytic Non-megaloblastic anemias?

A
  • Liver dz
  • Alcoholism
  • Reticulocytosis
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6
Q

What are the Normocytic Extrinsic hemolytic anemias?

A
  • Autoimmune
  • Microangiopathic
  • Macroangiopathic
  • Infections
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7
Q

What is Microcytic hypochromatic anemia?

A

MCV <80fL

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8
Q

What causes iron def anemia?

A

Dec iron d/t chornic bleeding (GI loss, menorrhagia), malnutrition/absorption disorders or inc demand→ dec final step in heme synthesis

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9
Q

What are the findings in Iron def anemia?

A
  • Dec iron
  • Inc TIBC
  • Dec ferritin
  • Microcytosis
  • Hypochromia
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10
Q

What is the triad of Plummer-Vinson synd?

A
  • Iron def anemia
  • Esophageal webs
  • Atrophic glossitis
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11
Q

What is the defect in alpha-thalassemia?

A

Alpha-globulin gene mutations→ dec alpha-globin synthesis

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12
Q

Which deletion is prevalent in Asian pop w/ alpha-thalassemia?

A

Cis deletion

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13
Q

Which deletion is prevalent in African pop w/ alpha-thalassemias?

A

Trans deletion

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14
Q

What are the features of 4 gene deletion alpha thalassemia?

A
  • No alpha globin
  • Excess gamma-globin forms gamma 4 (Hb Barts)
  • Incompatible with life–hydrops fetalis
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15
Q

What are the features of 3 gene deletion alpha thalassemia?

A
  • HbH dz
  • Very little alpha-globin
  • Excess ß-globin forms ß4 (HbH)
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16
Q

What are the features of 1-2 gene deletion alpha thalassemia?

A

No clinically significant anemia

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17
Q

What causes ß-thalassemia?

A

Point mutations in splice sites & promoter sequences→ dec ß-globin synthesis

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18
Q

Which pop is ß-thalassemia prevalent in?

A

Mediterranean

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19
Q

What are the findings in ß-thalasemia minor?

A
  • Heterozygote
  • ß chain underproduced
  • Dx confirmed by inc HbA2 (>3.5%) on electrophoresis
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20
Q

What are the findings in ß-thalassemia major?

A
  • Homozygote
  • ß chain is absent
  • Marrow expansion
  • Inc in HbF (alpha2gamma2)
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21
Q

What does absent ß chain produce?

A

Severe anemia requiring blood transfusion

(2° hemochromatosis)

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22
Q

What are the features of marrow expansion?

A

Skeletal deformities

  • Chipmunk facies
  • “Crew cut” on skull x-ray
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23
Q

What are the features of HbS/ß thalassemia heterozygote?

A

Mild to moderate sickle cell dz depending on amount of ß-globin production

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24
Q

What does lead poisoning lead to?

A
  • Lead inhibits ferrochelatase & ALA dehydratase→ dec heme synthesis
  • Also inhibits rRNA degradation causing RBC’s to reatin aggregates of rRNA (basophilic stippling)
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25
Q

What inc the risk of lead poisioning?

A

High risk in houses w/ chipped paint

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26
Q

What are the sx of lead poisoning?

A
  • Lead lines on gingivae & metaphyses of long bones on x-ray
  • Encephalopathy & erythrocyte basophilic stippling
  • Abd colic & sideroblastic anemia
  • Wrist & foot drop
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27
Q

What are Burton’s lines?

A

Lead lines on gingivae

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28
Q

What is the 1st line tx for lead poisoning?

A

Dimercaprol & EDTA

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29
Q

What is used for chelation in kids?

A

Succimer

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30
Q

What is the defect in Sideroblastic anemia?

A

Defect in heme synthesis

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31
Q

What is the defect in Hereditary Sideroblastic anemia?

A

X-linked defect in delta-ALA synthase gene

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32
Q

What are the reversible etiologies in Sideroblastic anemia?

A

Alcohol, led & isoniazid

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33
Q

What are the findings in Sideroblastic anemia?

A
  • Ringed sideroblasts (w/ iron-laden mitochondria)
  • Inc iron
  • Normal TIBC
  • Inc ferritin
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34
Q

What is the tx for Sideroblastic anemia?

A

Pyridoxine (B6 cofactor for delta-ALA synthase)

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35
Q

What is Megaloblastic anemia?

A

Impaired DNA synthesis→ maturation of nucleus delayed relative to maturation of cytoplasm

Ineffective ereythropoiesis→ pancytopenia

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36
Q

What are the etiologies of Folate deficiency?

A
  • Malnutrition
  • Malabsorption
  • Antifolates
  • Inc requirement
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37
Q

What are the findings in Folate deficiency?

A
  • Hypersegmented neutrophils
  • Glossitis
  • Dec folate
  • Inc homocysteine but normal methylmalonic acid
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38
Q

What are the etiologies of B12 deficiency (cobalamin)?

A
  • Insufficient intake
  • Malabsorption
  • Pernicious anemia
  • Diphyllobothrium latum
  • Proton pump inhibitors
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39
Q

What are the findings in B12 def?

A
  • Hypersegmented neutrophils
  • Glossitis
  • Dec B12
  • Inc homocysteine
  • Inc methylmalonic acid
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40
Q

What causes the neurologic sx in B12 def?

A

Subacute combined degeneration d/t involvement to B12 in fatty acid pathways & myelin synthesis

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41
Q

What are the neurologic sx in B12 def?

A
  • Peripheral neuropathy w/ sensorimotor dysfunction
  • Posterior columns (vibration/proprioception)
  • Lateral corticospinal (spasticity)
  • Dementia
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42
Q

What causes Orotic aciduria?

A

Genetic mutation in enzyme that synthesizes uridine from orotic acid

43
Q

How does Orotic aciduria present?

A

In children as megaloblastic anemia that cannot be cured by folate or B12

44
Q

What are the findings in Orotic aciduria?

A
  • Hypersegmented neutrophils
  • Glossitis
  • Orotic acid in urine
45
Q

What is the tx for Orotic aciduria?

A

Uridine monophosphate to bypass mutated enzyme

46
Q

What are Nonmegaloblastic macrocytic anemias?

A

Macrocytic anemia in which DNA synthesis is unimpaired

47
Q

What are the causes of Nonmegaloblastic macrocytic anemia?

A
  • Liver dz
  • Alcoholism
  • Reticulocytosis→ Inc MCV
  • Drugs (5-FU, AZT, hydroxyurea)
48
Q

What are the findings in Nonmegaloblastic macrocytic anemias?

A

Macrocytosis & BM suppression can occur in the absence of folate/B12 def

49
Q

What are the findings in Intravascular hemolysis?

A
  • Dec haptoglobin
  • Inc LDH
  • Hb in urine
50
Q

What are the findings in Extravascular hemolysis?

A
  • Macrophage in splen clears RBC
  • Inc LDH plus inc UCB which causes jaundice
51
Q

What is Anemia of chronic dz (ACD)?

A

Inflammation→ inc hepcidin→ dec release of iron from macrophages

52
Q

What is hepcidin?

A

Released by liver, binds ferroportin on intestinal mucosal cells & macrophages thus inhibiting iron transport

53
Q

What are the findings in ACD?

A
  • Dec iron
  • Dec TIBC
  • Inc ferritin
  • Can become microcytic, hypochromic or nonhemolytic, normocytic
54
Q

What causes Aplastic anemia?

A

Failure or destruction of myeloid stem cells

55
Q

What are the etiologies of Aplastic anemia?

A
  • Radiation & drugs (benzene, chloramphenicol, alkylating agents, antimetabolites)
  • Viral agents (B19, EBV, HIV, HCV)
  • Fanconi’s anemia (DNA repair defect)
  • Idiopathic
56
Q

What are the findings in Aplastic anemia?

A
  • Pancytopenia characterized by severe anemia, leukopenia & thrombocytopenia
  • Normal cell morphology but hypocellular BM w/ fatty infiltration (dry BM tap)
57
Q

What are the sx of Aplastic anemia?

A
  • Fatigue
  • Malaise
  • Pallor
  • Purpura
  • Mucosal bleeding
  • Petechiae
  • Infection
58
Q

What is the tx for Aplastic anemia?

A
  • Withdrawal of offending agent
  • Immunosuppressive regimens
  • Allogenic BM transplantation
  • RBC & platelet transfusion
  • G-CSF or GM-CSF
59
Q

What is the anemic affect of Chronic kidney dz?

A

Dec erythropoietin→ dec hematopoiesis

60
Q

What is the defect in Hereditary spherocytosis?

A

Defect in proteins interacting w/ RBC membrane skeleton & plasma membrane

61
Q

What does the dec in membrane in hereditary spherocytosis cause?

A

Small & round RBC’s w/ no central pallor→ premature removal of RBCs by spleen

62
Q

What are the findings in Hereditary spherocytosis?

A
  • Splenomegaly
  • Aplastic crisis (Parvovirus B19 infection)
  • Labs: positive osmotic fragility test, normal to dec MCV w/ abundance of cells, masks microcytia
63
Q

What is the tx of Hereditary spherocytosis?

A

Splenectomy

64
Q

What is the defect in G6PD deficiency?

A

X-linked G6PD→ dec glutathione→ inc RBC susceptibility to oxidant stress

65
Q

What happens following oxidant stress in G6PD def?

A

Hemolytic anemia

RBC’s primarily destroyed extravascularly

66
Q

What are the findings in G6PD def?

A
  • Back pain
  • Hemoglobinuria a few days later
  • Labs: blood smear shows RBCs w/ Heinz bodies & bite cells
67
Q

What is the defect in Pyruvate kinase def?

A

AR defect in pyruvate kinase→ dec ATP→ rigid RBCs

68
Q

What are the findings in Pyruvate kinase def?

A

Hemolytic anemia in a newborn

69
Q

What is the cause of HbC defect?

A

Glutamic acid-to-lysine mutation at residue 6 in ß-globin

70
Q

What are the findings in HbC defect?

A

Pts w/ hbSC (1 of each mutant gene) have milder dz thatn have HbSS pts

71
Q

What is Paroxysmal nocturnal hemoglobinuria?

A

Inc complement-med RBC lysis (impaired synthesis of GPI anchor or decay-accelerating factor that protect RBC mem from complement)

72
Q

What is the cause of Paroxysmal nocturnal hemoglobinuria?

A

Acquired mutation in a hematopoietic stem cell

73
Q

What is the triad in Paroxysmal nocturnal hemoglobinuria?

A
  • Hemolytic anemia
  • Pancytopenia
  • Venous thrombosis
74
Q

What is shown on labs in paroxysmal nocturnal hemoglobinuria?

A

CD55/59 neg RBCs on flow cytometry

75
Q

What is the tx of paroxysmal nocturnal hemoglobinuria?

A

Eculizumab

76
Q

What is the cause of Sickle cell anemia?

A

HbS point mutation causes a single amino acid replacement in ß chain (substitution of glutamic acid w/ valine) at position 6

77
Q

What is the pathogenesis in Sickle cell anemia?

A

Low O2 or dehydration precipitates sickling (deoxy HbS polymerizes) which results in anemia & vaso-occlusive dz

78
Q

Why are sickle cell anemia newborns initially asx?

A

Inc HbF & dec HbS

79
Q

What are heterozygotes w/ sickle cell trait resistance to?

80
Q

8% of ___ ___ carry the HbS trait.

A

African Americans

81
Q

What are the findings in Sickle cell anemia?

A
  • Sickled cells are crescent-shaped RBCs
  • “Crew cut” on skull x-ray d/t marrow expansion from in erythropoiesis
82
Q

What are the complications in homozygotes w/ sickle cell dz?

A
  • Aplastic crisis (d/t parvovirus B19)
  • Autosplenectomy
  • Splenic sequestration crisis
  • Salmonella osteomyelitis
  • Painful crisis
  • Renal papillary necrosis & microhematuria
83
Q

What does Autosplenectomy inc risk for?

A

Inc risk of infection w/ encapsulated organisms

84
Q

What are the painful crisis in sickle cell anemia?

A
  • Dacytlitis
  • Acute chest synd
  • Avascular necrosis
85
Q

What is the tx for Sickle cell anemia?

A

Hydroxyurea (inc HbF) & BM transplantation

86
Q

What is Warm agglutinin (IgG) seen in?

A

Chronic anemia seen in SLE, CLL, or w/ certain drugs

87
Q

What is Cold agglutinin (IgM) seen in?

A
  • Acute anemia triggered by cold
  • CLL
  • Mycoplasma pneumonia infections
  • Infectious mononucleosis
88
Q

What are the findings in Autoimmune hemolytic anemia?

A

Usually Coombs’ positive

89
Q

What is Direct coombs’ test?

A
  • Anti-Ig Ab added to pt’s serum
  • RBCs agglutinate if RBCs are coated w/ Ig
90
Q

What is Indirect Coombs’ test?

A

Normal RBC’s added to pt’s serum agglutinate if serum has anti-RBC surface Ig

91
Q

What is the pathogenesis in Microangiopathic anemia?

A

RBCs are damaged when passing through obstructed or narrowed vessel lumina

92
Q

What disorders are Microangiopathic anemia seen in?

A
  • DIC
  • TTP-HUS
  • SLE
  • Malignant HTN
93
Q

What are the findings in Mircoangiopathic anemia?

A

Shistocytes (helmet cells) are seen on blood smear d/t mech destruction on RBCs

94
Q

What can cause Macroangiopathic anemia?

A

Prosthetic heart valves & aortic stenosis may also cause hemolytic anemia 2° to mech destruction

95
Q

What are the findings in Macroangiopathic anemia?

A

Schistocytes on peripheral blood smear

96
Q

What can infections cause?

A

Inc destruction of RBCs

97
Q

What are the lab values in Iron def?

A
  • 1° dec serum iron
  • Inc Transferring or TIBC
  • Dec Ferritin
  • Dec % transferrin saturation
98
Q

What are the lab values in Chronic disease?

A
  • Dec serum iron
  • Dec Transferring or TIBC
  • 1° Inc Ferritin
99
Q

What are the lab values in Hemo-chromatosis?

A
  • 1° inc in serum iron
  • Dec in Transferrin or TIBC
  • Inc Ferritin
  • Inc % transferrin saturation
100
Q

What are the lab values in Pregnancy/OCP use?

A
  • 1° inc in Transferrin or TIBC
  • Dec in % transferring saturation
101
Q

What is the function of Transferrin?

A

Transports iron in blood

102
Q

What is the function of Ferritin?

A

1° storage protein of body

103
Q

Why does Transferrin or TIBC dec in chronic dz?

A

Pathogens use ciruclating iron to thrive. Iron is stored w/in the cells of the boyd & prevents pathogens from acquiring iron

104
Q

When is Transferrin production inc?

A

Pregnancy & OCP use

Hematology & Oncology (7 decks)

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