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Blood and Cancer > Anemia diseases > Flashcards

Anemia diseases Flashcards

1
Q

What are general findings in anemia (6)?

A

Fatigue

Weakness

Dyspnea

Lightheadedness

Pale conjunctiva

Headache

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2
Q

How, generally, is anemia diagnosed?

A

Hematocrit and hemoglobin

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3
Q

Anemias are divided into 3 general categories. What are they?

A

Microcytic anemia (<80 fL)

Normocytic anemia (80-100 fL)

Macrocytic anemia (>100 fL)

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4
Q

What causes microcytic anemia?

A

extra division in erythrocyte to maintain MCHC, as hemoglobin synthesis is impaired

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5
Q

What are the 5 causes of microcytic anemia?

A

Sideroblastic anemia

Anemia of chronic disease (Late)

lead poisoning

Thalassemia (alpha and beta)

Iron deficiency (Late)

(SALTI)

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6
Q

What is sideroblastic anemia?

A

Deficiency in protoporphyrin synthesis resulting in anemia

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7
Q

What causes sideroblastic anemia? (2 causes)

A

ALA synthase mutation or vitamin B6 deficiency

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8
Q

What is the pathophysiology of sideroblastic anemia?

A

Fe is pumped into mitochondria located in the erythroblast. Because there is a deficiency in ALA sythase, porphyrin is never made and Fe never binds to porphyrin in the mitochondria. This results in a build up of iron in the mitochondria causing the formation of free radicals. These free radicals eventually destroy the cell and release all of the iron into the blood. As a result, transferrin binds the massive spillage of iron and brings it to storage tissue.

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9
Q

What are the lab findings in Sideroblastic anemia? (serum iron, TIBC, % saturation, ferratin)

A

Increased ferratin

Decreased TIBC

Increased serum iron

Increased iron saturation on transferrin

hypochromic RBCs

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10
Q

What is anemia of chronic disease?

A

Chronic inflammation resulting in anemia

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11
Q

What is the pathophysiology of anemia of chronic disease?

A

Chronic inflammation results in the increased synthesis of hepcidin, which inhibits ferroportin preventing the release of iron from storage sites (duodenal enterocytes, liver, and bone marrow macrophages), and suppresses Epo synthesis. This decreases the amount of Hb synthesis, resulting in an extra division of erythrocytes resulting in microcytic RBCs and anemia

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12
Q

What are lab findings of anemia of chronic disease? (serum iron, TIBC, % saturation, ferratin, FEP)

A

decreased serum iron

Decreased TIBC (cells sense that there is plenty of iron so it decreases the amount)

decreased iron saturation % on transferrin

increased ferratin

increased free erythrocyte protoporphyrin (FEP)

Hypochromic RBCs

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13
Q

What is the treatment for anemia of chronic disease?

A

treat the underlying cause

Some patients will benefit from recombinant Epo, since chronic inflammation can suppress natural synthesis of Epo

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14
Q

What is anemia from lead poisoning? How does it present?

A

lead inhibits ALAD and ferrochetolase, which inhibits Hb synthesis

Similar to sideroblastic anemia

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15
Q

What is thalassemia? What are the two types?

A

A decrease in SYNTHESIS of globin chains
alpha and beta thalassemia

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16
Q

What are the 3 normal types of hemoglobin?

A

HbF (α2γ2)

HbA (α2β2)

HbA2 (α2δ2)

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17
Q

How many alpha genes do we have?

A
  1. 2 alleles for each chromosome
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18
Q

What are the 4 types of alpha thalassemia and indicate their genotype and severity

A

Silent carrier:

  • -α/αα
  • Asymptomatic

α-thalassemia trait

  • -α/-α (more common in Africans) or –/αα (more common in Asians)
  • Mild anemia

HbH disease

  • –/-α
  • Severe anemia
  • Formation of HbH (β4 tetramer), which damages RBCs

Hydrops fetalis

  • –/–
  • Incompatible with life
  • Formation of Hb Bart’s (γ4 tetramer)
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19
Q

How many beta genes do we have?

A
  1. 1 allele on each chromosome
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20
Q

When does beta thalassemia typically present. Why?

A

6-9 months of age

This is the transition period from HbF to HbA

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21
Q

What are the types of mutations that can occur in a beta allele?

A

absent (β0) or diminished (β+) production of β-globin

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22
Q

What are the types of beta thalassemia? Indicate the geneotype and its severity

A

β thalassemia minor

  • β/β+ or β/β0
  • Mild form of anemia

β thalassemia major

  • β/β+ or β0/β0
  • Severe anemia
  • Typically presents around 6-9 months when beta chains replace γ chains
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23
Q

What are the lab findings of thalassemias?

A

target cells

Electrophoresis

  • Decreased HbA
  • Increased HbA2
  • Increased HbF
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24
Q

What is the treatment for thalassemias?

A

blood transfusions with iron chelator to prevent iron overload

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25
Q

Decribe iron homeostasis (how it is absorbed and delivered into tissues). What is hepcidin?

A
  • When consumed, heme is broken down via heme oxygenase, which releases Fe3+.
  • Ferroreductase converts iron into its ferrous form at the duodenum
    • Fe3+ —-ferroreductase—-> Fe2+ (ferrous iron)
  • Fe2+ moves through the divalent metal transporter DMT1
    • Some of the ferrous iron is stored in a protein cage, which together is called ferritin
  • Fe2+ moves through the enterocyte via the ferroportin channel located on the basolateral side of the enterocyte
    • This channel can be inhibited by hepcidin
  • Once, out of the enterocyte, Fe2+ is oxidized to Fe3+ via ferrous oxidase
  • Fe3+ binds to transferrin, a protein responsible for iron transport in the blood
    • Transferrin is important as free iron creates free radicals
  • Transferrin delivers Fe3+ to liver and bone marrow macrophages for storage
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26
Q

What are some clinical presentations of iron deficiency anemia?

A

Koilonychia (spoon nails; concaved nail beds)

Pica (chewing on things)

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27
Q

What are the lab findings in iron deficieny anemia? (serum iron, TIBC, % saturation, ferratin, FEP)

A

Serum iron decreases

Total iron binding capacity (TIBC) increases (increase to try and find more iron)

% saturation decreases

Ferritin is decreased

Free erythrocyte protoporphyrin (FEP) increases

Hypochromic RBCs

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28
Q

What is the treatment for iron deficiency?

A

ferrous sulfate

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29
Q

What are the two subcategories of normocytic anemia?

A

non hemolytic (underproduction)

hemolytic (immune mediated and non-immune)

30
Q

What are the causes of non-hemolytic anemia?

A

Aplastic anemia

myelophthisic processes

iron deficiency (early)

anemia of chromic disease (early)

Fanconi anemia

31
Q

What is aplastic anemia?

A

an insult to HSCs, which results in pancytopenia

32
Q

What is the pathophysiology to aplastic anemia?

A

Alteration to the stem cell can either 1) result in expression of a neoantigen that results in immune destruction of the HSC via CD8s, or 2) reduce the HSC’s ability to proliferate

33
Q

Can drugs and chemicals cause aplastic anemia?

A

yes

34
Q

Can viral infections cause aplastic anemia?

A

yes

35
Q

Can autoimmune damage cause aplastic anemia?

A

yes

36
Q

Name a genetic disease that causes aplastic anemia

A

fanconi anemia

37
Q

What would CBC show in aplastic anemia? bone marrow biopsy?

A

pancytpoenia (all cells from meyloid lineage)

decreased cellularity and increased adipose tissue

38
Q

What is the treatment for aplastic anemia (think about the different causes)?

A

Cessation of drug or prevent exposeure to chemical

corticosteroids to suppress immune system

Transfusion

marrow stimulating factors

HSCT

39
Q

What is a myelophthisic process?

A

Process that replaces the bone marrow, which impairs hematopoiesis.

(cancer, fibrosis, etc)

40
Q

What are causes of immune mediated and non-immune hemolytic anemia?

A

Immune:

  • Paroxysmal nocturnal hematuria
  • Immune hemolytic anemia
    • Warm
    • Cold

Non-immune:

  • Intrinsic:
    • Glucose-6-Phosphate Dehydrogenase Deficiency
    • Hereditary spherocytosis
    • Sickle cell anemia
  • Extrinsic:
    • Microangiopathic hemolytic anemia
      • TTP, HUS, DIC
    • Macroangiopathic hemolytic anemia
      • Defective heart valve
41
Q

What is the pathophysiology of Paroxysmal nocturnal hematuria? Why does it occur at night?

A

Acquired defect of the GPI linkage protein in myeloid cell lineage (all myeloid cells), resulting in absent GPI. GPI is needed for CD59 and CD53 (Decay accelerating factor) linkage. This leaves RBCs and other cells vulnerable to complement system, which is in the blood serum, leading to cell destruction.

The reason for increased destruction at night is due to our bodies breathing shallow when we sleep, making us retain more CO2. This decreases blood pH, which increases activity of complement. Therefore, the decrease in pH causes increased destruction.

42
Q

Will Paroxysmal nocturnal hematuria have a positive coombs test?

A

Yes!

GPI deficiency results in no CD59 or CD53 (DAF). This means Ig mediated complement activation can occur

43
Q

What test is used to definitively diagnose Paroxysmal nocturnal hematuria?

A

acid lysis test

(decrease pH which increases activity of complement system)

44
Q

What are the two types of immune hemolytic anemias? What are the Igs involved?

A

Warm Autoantibodies (IgG)

Cold Autoantibodies (IgM)

WAG CAM

45
Q

What is the pathophysiology of warm and cold immune hemolytic anemia?

A

Similar to hereditary spherocytosis, immune hemolytic anemia causes spherocytosis. Immunoglobulins bind to antigens on RBCs, which pass through the spleen and are recognized via splenic macrophages. These macrophages either completely destroy the RBC or remove part of the membrane, decreasing the surface area-to-volume ratio, forming spherocytes. These spherocytes are then destroyed when they pass through the spleen.

46
Q

will immune hemolytic anemia have a positive coombs test?

A

yes

47
Q

What is the treatment for immune hemolytic anemia?

A

corticosteroids (suppress immune system)

IVIG (attack IVIG which leaves RBCs alone)

splenectomy (gets rid of the Ig secreting plasma cell source)

48
Q

What are the two categories of non-immune hemolytic anemias and the causes?

A

Intrinsic:

  • Hereditary spherocytosis
  • G6PD deficiency
  • HbS

Extrinsic

  • Microangiopathic hemolytic anemia
    • HUS, TTP, DIC
  • Macroangiopathic hemolytic anemia
    • Valve problem
49
Q

What is the pathophysiology of hereditary spherocytosis?

A

Defective vertical connections cause blebs in the RBC membrane. Macrophages in the spleen remove the blebs, which causes a spherical shape over time due to the low surface are-to-volume ratio. Ultimately, these spherocytes are not able to maneuver through the spleen and so they are destroyed

50
Q

What are the 3 common genetic mutations that cause hereditary spherocytosis?

A

Band 3, Ankyrin, or Beta-spectrin are most common causes

51
Q

How is hereditary spherocytosis diagnosed?

A

Osmotic fragility test

52
Q

What is the treatment for hereditary spherocytosis?

A

Splenectomy

remember, the spherocytes are viable. The issue is they cannot maneuver through the spleen and are therefore destroyed. Remove the spleen and the RBCs will be fine

53
Q

What is Glucose-6-Phosphate Dehydrogenase Deficiency?

A

X-linked recessive mutation in G6PD gene

54
Q

What is the pathophysiology of G6PD?

A

Mutation in the G6PD gene results in a reduce half-life of G6PD. G6PD is required for the synthesis of glutathione. Glutathione is responsible for reducing reactive oxidative species that damage the cell. The reduced half-life of G6PD means the cell loses the ability to synthesize glutathione much sooner than a normal cell. Without glutathione, ROS wreak havoc and denature Hb. Denatured Hb form precipitates called Heinz bodies. Splenic macrophages will sometimes remove the precipitates by taking a “bite” of the cell, forming bite cells or it will completely destroy the cell.

55
Q

What are type of blood cells are found in G6PD deficiency?

A

Bite cells

56
Q

What is HbS?

A

Sickle cell anemia is a autosomal recessive mutation in beta chain of hemoglobin resulting in a defect in Hb

57
Q

What is the pathophysiology of HbS anemia?

A

When HbS becomes deoxygenated, the HbS polymers aggregate into “needle-like structures” which forces the RBC to become a sickle shape. This results in extravascular (primary pathology) and intravascular hemolysis. Intravascular lysis can result in vaso-occlusive issues

58
Q

How does HbF prevent sickling?

A

HbF (fetal hemoglobin) helps prevent the polymerization of HbS within the RBC. HbF is synthesized even after birth, but at low amounts. However, some individuals synthesize more than others.

59
Q

What is the treatment for HbS?

A

Hydroxyurea

Hydroxyurea increases HbF expression, which prevents sickling

60
Q

What is microangiopathic hemolytic anemia?

A

Formation of a thrombus that results in the sheering of the RBC

61
Q

What are the causes of microangiopathic hemolytic anemia?

A

Thrombotic thrombocytopenia purpura

Hemolytic uremia syndrome

Disseminated intravascular coagulation

62
Q

What causes macrocytic hemolytic anemia?

A

typically defective heart valves

63
Q

What are the causes of macrocytic anemia

A

megaloblastic anemia

non-megaloblastic anemia

64
Q

What are the 3 causes of megaloblastic anemia?

A

folate deficiency

B12 deficiency

orotic aciduria (don’t need to know for the test)

65
Q

Describe folate homeostasis (absorption and delivery)

A
66
Q

What are the 4 major lab findings in folate deficiency?

A

Hypersegmented PMNs (> 5 lobes)

Decreased serum folate

Increased serum homocysteine

Normal methylmalonyl-CoA levels

67
Q

Describe B12 homeostasis

A
68
Q

What is pernicious anemia?

A

Pernicious anemia is an autoimmune disorder that destroys the parietal cells in the stomach, which prevents the synthesis of IF. The lack of intrinsic factor prevents the absorption of cobalamin leading to anemia and other complications

69
Q

Which deficiency, folate or B12, will result in CNS abnormalities?

A

B12

70
Q

What are the 4 major lab findings in B12 deficiency?

A

Hypersegmented PMNs (> 5 lobes)

Decreased B12 levels

Increased serum homocysteine

Increased methylmalonyl-CoA levels

Blood and Cancer (10 decks)

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