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Patient Presentation > Anemias > Flashcards

Anemias Flashcards

1
Q

Polycytheremia Vera pertinent blood smear findings. Why?

A

Will find erythroid precursors in the blood and abundance of RBCs. Myeloproliferative disorder. BONE MARROW INVASION. RBCs proliferate so quickly they push immature precursors into the blood.

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2
Q

What disease is characterized by bone marrow fibrosis and extramedullary hematopoiesis. Why?

A

Polycytheremia vera characterized by bone marrow fibrosis as bone marrow is constantly creating new RBCs and becomes spent. PV also characterized by other organs such as spleen and liver having to produce RBCs as a result of bone marrow being spent

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3
Q

Distinct clinical symptoms of PV

A

Largely asymptomatic and found with routine testing and decreased Hb and Hct.

If there are clinical symptoms its usually itching/prutitus. Possibly splenogamaly from spleen production of RBCs

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4
Q

Biggest clinical complications related to PV

A

Thrombosis and hemorrhage

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5
Q

Polycythemia Vera mechanisms of disease? How does this cause disease

A

JAK2 gene mutation. Mutation of JAK2 gene on EPO receptor of RBC constitutively activates JAK/STAT pathway regardless of EPO binding or not to constant stimulate creation of RBCs

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6
Q

Primary PV v. Secondary PV definitions and how to tell them apart in labs?

A

Primary PV: intrinsic problem with RBCs, JAK2 mutation

Secondary PV: proliferation of RBCs caused by primary disease. No JAK2 mutation

Lab:
primary PV- normal O2, low EPO. Body knows RBCs are being produced and does not want more

Secondary PV- low O2, high EPO. Caused by hypoxia etc, body secretes more EPO cause it needs more O2

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7
Q

Treatment of PV

A

Primary: phlebotomy and hydroxyurea
Secondary: other myelosuppressive drugs (hydroxyurea is a myelosuppressive drug and antimetabolite that prevents DNA replication and decreases # of RBCs)

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8
Q

PV eventually transforms into…

A

With treatment prognosis is 10 years before the spent phase eventually transforms into leukemia

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9
Q

Most common cause of anemia

A

Iron-deficiency

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10
Q

How does iron deficiency affect the body’s metabolic processes?

A

Iron deficiency affects the process of heme synthesis. Iron required for the last step to convert protoporphyrin IX to heme. Less iron = less heme = less hemoglobin

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11
Q

Compensatory mechanisms for iron-deficiency and maintenance of oxygen delivery

A

-Increased cardiac output (HR/stroke volume)
-Decreased oxygen affinity, increased O2 unloading
-Increased O2 extraction from tissues

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12
Q

Major causes of iron deficiency (3)

A
  1. Chronic blood loss
  2. Decreased nutritional intake
  3. Increased iron requirement
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13
Q

Key examples of chronic blood loss in IDA

A

Key: Heavy menses
Hematemesis (vomit blood)

Less obvious: blood donation, occult GI bleeding (could cause dark stool/melena), or parasitic infections

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14
Q

Types of dietary iron intake

A
  1. Meat-based: Fe2+, reduced ferrous iron. Readily enters intestines.
  2. Plant-based: Fe3+, oxidized ferric iron. Difficult to digest, must be reduced to enter intestine
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15
Q

Clinical symptoms specific to iron-deficient anemia

A

-Craving for items not thought of as food (ice, dirt, clay)
-Spoon nails/koilonychia
-Angular cheilitis (cracks and fissures at mouth corners)

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16
Q

CBC findings of IDA (Hb, Hct, RBCs, RDW, Reticulocyte count)

A

-Hb and Hct decreased
-RBC count decreased
-Microcytic
-RDW increased
-Reticulocyte count

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17
Q

How to differentiate between IDA and the other disease that has similar CBC findings

A

Other disease with similar CBC findings to IDA, is anemia of chronic disease.

Definitive labs for IDA:
-SERUM FERRITIN: LOW in IDA. (normal/high in ACD)
-TIBC: high in IDA (normal/low in ACD)

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18
Q

Why would IV iron be given instead of PO iron for iron-deficient patients?

A

Patient cannot tolerate oral iron or patient has IBS, gastric bypass surgery, or poor absorption

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19
Q

What factors impair absorption of iron and why?

A

Calcium, phytates, and tannates impair absorption (milks, egg, cereals). All of these things decrease the acidic environment needed for the redox reaction of Fe3+ to Fe2+ for intestine absorption

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20
Q

Similarity of thalassemias. Difference between alpha and beta thalassemia

A

Similar in that they are inherited genetic blood disorders that inhibit the synthesis of enough globin chains of hemoglobin.

Alpha thalassemia: cannot make enough alpha globins. 4 alleles and DELETION of gene

Beta thalassemia: cannot make enough beta globins. 2 alleles and MUTATION of gene

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21
Q

What are H bodies, what disease are they associated with, how many types are there

A

H bodies: tetramers of beta globin chains

Disease: Alpha thalassemia

Types:
Adult- HbH/ H bodies
Fetal- Hb Barts

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22
Q

What makes thalassemia RBCs have shorter lifespan? (2)

A
  1. More fragile, can hemolyze when squeezing through tiny spaces
  2. Likely to be removed from circulation by splenic macrophages
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23
Q

Associated disease and severity of alpha thalassemia with 1 gene deletion

A

Silent carrier, no anemia, asymptomatic

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24
Q

Associated disease and severity of alpha thalassemia with 2 gene deletions

A

Alpha thalassemia trait with mild anemia

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25
Q

Associated disease and severity of alpha thalassemia with 3 gene deletions

A

HbH disease with moderate to severe anemia

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26
Q

Associated disease and severity of alpha thalassemia with 4 gene deletions

A

Hydrops fetalis, very severe anemia usually incompatible with life. Called hydrops fetalis because happens in fetuses and heart compensates by beating faster/harder until it eventually fails

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27
Q

How does the allele expression of globin chains affect the disease process?

A

Disease process is thalassemia
Alleles are expressed codominantly in both alpha and beta thalassemia, this gives the spectrum of severity seen.
Beta thalassemia has MUTATION that causes INSUFFIENCY or FULL LOSS OF FUNCTION in beta chain production
Alpha less of a problem because its a deletion (either its there or its not)

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28
Q

Genotype and anemia description of beta thalassemia minor

A

Mild anemia
Genotype:
1 wild type beta and one mutated beta chain with loss of function

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29
Q

Genotype and anemia description of beta thalassemia trait

A

Mild anemia
Genotype: 1 wild type and 1 mutated beta chain with some insufficient function

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30
Q

Genotype and anemia description of beta thalassemia intermedia

A

Moderate - Severe anemia
Genotype:
Can be B+/B0 (mutated insufficient/mutated LOF)
Can be B+/B+ (2 mutated with some insufficient function)

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31
Q

Genotype and anemia description of beta thalassemia major

A

Severe and life-threatening anemia
Genotype: B0/B0
two mutated beta chain alleles both with no function. No production of beta chains at all

32
Q

Most common physical manifestation of extramedullary hematopoiesis

A

Hepatosplenomegaly (liver and spleen enlargement)

33
Q

CBC findings of thalassemia

A

Dependent on severity but always hypochromic and microcytic for beta and alpha (Hb, Hct, MCHC-hypochromic, MCV all low).

RBC count usually increased

34
Q

What CBC finding differentiates IDA and Thalassemia

A

Both microcytic and hypochromic diseases.

RBC count differentiates the two:

IDA- low as RBCs cannot be produced

Thalassemia-high RBC count as more RBCs are produced to compensate for decreased oxygen carrying capacity

35
Q

Treatment of thalassemias based on their severity

A

Mild cases don’t require treatment because of mild anemia

More severe cases (HbH disease, thalassemia major) require chronic transfusions with iron chelating agents

VERY severe cases treated with stem cell transplant

36
Q

Glucose-6-Phosphate Dehydrogenase Deficiency category of effect on RBC

A

Increased RBC production

37
Q

How does a G6PD deficiency affect the body’s metabolic processes and which process is effected?

A

Process of antioxidation.
1. 6GPD reduces NADP –> NADPH within the pentose phosphate pathway.
2. NADPH used to reduce glutathione
3. Glutathione a powerful reductor, coverts H2O2 to water (detoxification)

Purpose of G6PD is to keep NADPH in its reduced state bc RBCs need NADPH

38
Q

When does G6PD deficiency become pathological?

A

Usually there is enough enzyme with G6PD-deficient cells to handle free radical buildup of NORMAL cell metabolism.

Becomes pathogenic when there’s an exposure to more free radicals than usual

39
Q

What are examples of oxidizing agents and what disease can this cause pathogenesis within?

A

G6PD deficiency because lack of NADPH and reducing agents to neutralize free radicals

Exs: fava beans, infections, and certain drugs such as sulfonamides, dapsone, aspirin, chloramaphenicol)

40
Q

Why are free radicals not rad?

A

Cause lysing of cell
Free radicals break disulfide bonds and causes dissociation of hemoglobin into heme + globin

41
Q

Characteristic blood smear of G6PD deficiency

A
  1. Heinz body (from disassociation of hemoglobin, specifically denaturation and precipitation of globin)
  2. Bite cells, macrophages engulf some of the membrane as these RBCs pass through the spleen
  3. Can form spherocytes
42
Q

Where does hemolysis of RBCs occur in G6PD deficiency?

A

Extravascular (spleen) AND
Intravascular (blood vessels)

43
Q

Clinical presentation of patients with G6PD deficiency

A

Usually clinically normal until oxidative triggers are encountered.

Then present with hemolytic crisis:
-Hemoglobinuria
-Jaundice
-Back/flank pain (clogged kidneys)

44
Q

CBC of G6PD deficiency

A

Normocytic
Indirect hyperbilirubinemia
Elevated LDH (from RBC lysis)
Low haptoglobin (haptoglobin binds to increased lvls of Hb)
Reticulocytosis (increased production of RBC precursors)

45
Q

Diagnostic confirmation of G6PD deficiency?

A

G6PD enzymatic study that measures the level of G6PD present in circulating RBCs (done a week after a hemolytic episode)

46
Q

Antibody of warm AHA and at what temp

A

IgG, 37 C (body temp)

47
Q

Location of warm AHA hemolysis and why

A

Extravascular, in the spleen. IgG-coated RBCs go through the vessels and reach the spleen where they are phagocytose by macrophages that recognize the Fc portion of the antibody and hemolyzed

48
Q

Mechanism of AHA pathogenesis?

A

Idiopathic, we don’t know but sometimes that are associated acute infections and some medications that can induce warm AHA like chemotherapeutics, lactamase inhibitors, and a-methyldopa

49
Q

Cold AHA antibody type and special antibody action

A

IgM and called cold agglutinins because they’ve been found clumping together in the periphery of the body

50
Q

Which antibody is the most effective at activating the complement system? What disease process is this important to?

A

IgM, which is important to COLD AHA. Complement system activation leads to intravascular hemolysis

51
Q

CBC findings of autoimmune hemolytic anemia

A

-Normocytic
-Reticulocyte increase (increased RBC destruction)
-Indirect hyperbilirubinemia
-(COLD AHA), low haptoglobin

52
Q

Blood smear findings of AHA, what should this not be confused with?

A

Bite cells and spherocytes can occur. Should not be confused with hereditary spherocytosis that also has spherocytes in the blood smear

53
Q

Diagnostic confirmation test of AHA

A

Direct antiglobulin test, direct Coombs test.

RBCs coated in antibodies, Coombs reagent binds to antibodies and causes agglutination

54
Q

Treatment of AHA

A

Still an autoimmune disease and should be treated as such.

Warm: prednisone, rituximab, splenectomy

Cold: difficult to treat, rituximab, avoidance of cold. Esp if glucocortiocoids or splenectomy does not work

55
Q

What is a hemoglobinopathy? What is the prime example of a hemoglobinopathy?

A

Inherited disease with a point mutation on globin chain.

Ex: Sickle Cell Disease

56
Q

What is the mechanism of pathology for sickle cell disease?

A

Point mutation of the B-globin subunit that changes codon from glutamate to valine. Mutated B chains for hemoglobin variant HbS

57
Q

SCD inheritance pattern

A

Autosomal recessive, patient must inherit two mutated beta chain genes to express the disease

58
Q

Mechanism by which RBCs sickle?

A

Mutated hemoglobin in sickle cell disease (HbS) goes taut and exposes valine residue. HbS molecules polymerize to protect valine residues and this contorts the RBC into a sickle shape

59
Q

Conditions that shift oxygen curve to the right/promote RBC sickling (6)

A
  1. Low O2
  2. High CO2
  3. High 2,3-BPG
  4. Low pH
  5. High altitude
  6. High temperature
60
Q

Diagnostic test of SCD

A

Hemoglobin electrophoresis. Greater the distance traveled the less mutated the protein is, all the way til normal adult hemoglobin (HbA). Migration pattern depends on charge of the amino acids. Point substitution causes less migration.

Can also tell if patient is affected for HbS or is a carrier/heterozygous

61
Q

CBC of SCD

A

Normocytic anemia
Increased reticulocyte count

62
Q

Blood smear of SCD

A

Sickled cells
Howell-Jolly bodies (remnants of DNA)

63
Q

Functional aspleia associated with which disease. How does this functional asplena occur?

A

Associated with sickle cell disease

Occurs because of repeated vaso-occlusion by sickled RBCs trapped in blood vessels that eventually the spleen is damaged.

Splenomegaly at young age, then spleen becomes shrunken and involuted

64
Q

Other clinical problems due to vaso-occlusion (3)

A
  1. Avascular necrosis of hip
  2. Acute chest syndrome
  3. Infection
65
Q

Encapsulated bacteria seen in SCD

A

SHiNS
1. steptococcus pneumoniae
2. haemophilus influenzae
3. Neisseria meningitidis
4. Salmonella

66
Q

SCD treatment of anemia and disease

A

Anemia: blood transfusion and folic acid supplementation to replenish for increased hematopoiesis

Hydroxyurea drug, increases fetal hemoglobin

Pain crisis: hydration and analgesics. May require antibiotics, exchange transfusion, or bone marrow/stem cell transplant

67
Q

Name for deficiency in all 3 cell lines?
Name for decreased WBC disease?
Name for decrease RBC disease?
Name for decreased platelet disease?

A

3 cell lines: Pancytopenia

WBC: leukopenia

RBC: anemia

Platelets: thrombocytopenia

68
Q

Mechanism of aplastic anemia?

A

Hematopoietic stem cell damage (HSC damage) but considered idiopathic

69
Q

Definitive diagnosis of aplastic anemia?

A

Bone marrow biopsy. Hypocellular, filled with fat and stroma

70
Q

Known causes of aplastic anemia

A
  1. Radiation/chemotherapy
  2. Certain meds: CHLORAMPHENICOL, CARBAMAZEPINE
  3. Viral infections: Epstein-Barr, HIV, hepatitis B and C
  4. Toxic chemicals
  5. Hereditary diseases: Fanconi anemia
71
Q

Clinical treatment

A

First line treatment: eliminate the cause of the problem
Second line: immunosuppressive agents and supportive care like blood transfusions and marrow-stimulating factors

72
Q

Mechanism of action for sideoblastic anemia

A

First step of heme synthesis inhibited, therefore there is a buildup of iron that stays within mitochondria –> free radicals increase –> RBC hemolysis

73
Q

Important causes of sideroblastic anemia (2 types)

A

Congenital: X-linked deficiency
Acquired: myelodysplastic syndrome
Drugs (isonizaid-B6 deficiency, chloramphenicol, heavy metal poisioning. B6/pyridoxine deficiency)

74
Q

Sideroblastic CBC

A

MCV-inconclusive, can be any of the 3
Ferritin-increased
TIBC-decreased
Iron- increased
% iron sat- increases

75
Q

Treatment of sideroblastic anemia

A

Prevent organ damage
Counteract iron overload via phlebotomy and iron chelation drugs (deferoxamine)

76
Q

Underlying problem of megaloblastic anemia

A

DNA synthesis is impaired. Cell nuclei matures slowly and cytoplasm matures at normal rate to create large megaloblastic cells

Patient Presentation (9 decks)

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