Anemia Flashcards

1
Q

Anemia definition

A

a significant decrease in the mass of circulating RBCs

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2
Q

How is anemia measured?

A
  1. concentration of hemoglobin in blood
  2. hematocrit
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3
Q

Hematocrit

A

ratio of volume of red cells to total volume of blood

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4
Q

Why are anemic patients pale?

A

because blood is shunted away from the skin to more vital organs

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5
Q

What are the 3 primary causes of anemia?

A
  1. decrease RBC production
  2. increased red cell destruction (hemolysis)
  3. blood loss
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6
Q

How is decreased RBC production further classified?

A

microcytic, normocytic and macrocytic

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7
Q

How can non-immune hemolytic anemia be further classified?

A

inherited or acquired

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8
Q

HbS

A

form of hemoglobin found in individuals with sickle cell

polymerizes in low O2 conditions

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9
Q

anisocytosis

A

have 2 populations of RBCs with markedly different size

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10
Q

What does anisocytosis correspond to?

A

large RDW

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11
Q

What does an increased retic indicate?

A

there is no production problem

increased retic is usually in response to increase hemolysis that the cell is trying to make up for

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12
Q

What further classification should hemolytic anemia be broken into?

A

auto-immune or non-immune

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13
Q

How do you differentiate if hemolytic anemia is auto-immune or non-immune?

A

look at the DAT

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14
Q

+ DAT

A

indicates immune hemolytic anemia

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15
Q

What does a low retic indicate?

A

there is a problem with RBC production and we should consider morphological differences

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16
Q

When is there a concern for malignancy?

A

when there is low retic but still elevated MCV

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17
Q

Hematocrit

A

what % of blood is RBC

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18
Q

Relationship between hemoglobin and hematocrit

A

Hematocrit is 3x hemoglobin

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19
Q

Effects of reticulocytes on MCV

A

they drive MCV up since they are slightly larger

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20
Q

RDW

A

in a normal distribution, the range +/- 2 SDs from the MCV

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21
Q

Shistocyte

A

fragement of RBC

is very microcytic

22
Q

What is thalassemia?

A

abnormal ratios of alpha/beta chains

23
Q

Which configuration of alpha-thalassemia is more dangerous?

A

cis configuration

24
Q

When in HbA2 increased?

A

in people with B-thalassemia

25
Q

HbA2

A

two alpha and two delta chains

see this form in B-thalassemia when the beta chains normally in HbA are affected

26
Q

B-thalassemia affects which chain?

A

beta chains

27
Q

A-thalassemia affects which chain?

A

alpha chain

28
Q

What is sickle cell an example of?

A

protein aggregation disease

29
Q

Where do post-translation modifications like glycoslation occur?

A

in the golgi

30
Q

What does SRP do?

A

says if ribosome should go to the ER

31
Q

protein aggregation disease

A

misfolding causing aggregation

ex: Parkinson’s, Alzheimer, Huntington’s

32
Q

What is mutated in sickle cell?

A

glutamine to valine

33
Q

What is one cause of protein aggregation disorders (not sickle cell)?

A

nucleotide repeat expansions

DNA slips during replication and forms hairpin which leads to an expansion

34
Q

Where is nucleotide repeat expansion in Huntington’s?

A

PolyQ expands glutamine in coding region

35
Q

Where is nucleotide repeat expansion in Fragile X?

A

expansion in 5’ UTR leads to increased methylation / silencing

36
Q

halposufficiency

A

a single copy of the gene is enough to maintain normal function

disease is recessive to normal gene

ex: Cystic Fibrosis

37
Q

haploinsufficiency

A

a single copy of a normal gene cannot maintain normal function

disease in dominant over normal gene

ex: hypercholesterolemia

38
Q

Gain of function mutation

A

affects heterozygotes

is dominant / haploinsufficient

39
Q

Why is sickle cell autosomal recessive?

A

haplosufficient

one normal gene in heterozygotes can maintain normal function

therefore, you need two copies of missense allele to form mutation

40
Q

mutation in sickle cell

A

missense mutation of glutamine to valine

41
Q

What is the primary antioxidant in RBCs?

A

glutathione

42
Q

G6PD

A

enzyme that normally produces NADPH

43
Q

What does NADPH do?

A

regenerates and preserves reduced form of glutathione

44
Q

In G6PD deficiency what happens?

A

you can’t regenerate glutathione, so there is nothing to detoxify free radicals

lack of glutathione means that RBC will have to be hemolyzed

45
Q

When does B-thalassemia present? Why?

A

a couple months into life

the protective effects of HbF wane

you should produce HbA but the beta chains are affected

46
Q

What tells you if anemia is hypoproliferative or hyperproliferative?

A

the retic

47
Q

How much should total body stores of iron be?

A

3 grams

48
Q

How much iron does GI tract take in daily?

A

1-2 mg

49
Q

What happens when hepcidin is downregulated?

A

ferratin is uptaken into cells during iron deficiency

50
Q

Where does majority of serum transferrin deposit Fe?

A

into the bone marrow

deposits 20 mg from plasma to bone marrow

bone marrow places Fe on new RBCs

51
Q

What organ delivers some serum transferrin back?

A

spleen

deposits 18 mg from spleen to plasma

52
Q

Where is a majority of iron stored?

A

liver