Anemia

Question 1

Anemia definition

Answer 1

a significant decrease in the mass of circulating RBCs

Question 2

How is anemia measured?

Answer 2

1. concentration of hemoglobin in blood
2. hematocrit

Question 3

Hematocrit

Answer 3

ratio of volume of red cells to total volume of blood

Question 4

Why are anemic patients pale?

Answer 4

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

Question 5

What are the 3 primary causes of anemia?

Answer 5

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

Question 6

How is decreased RBC production further classified?

Answer 6

microcytic, normocytic and macrocytic

Question 7

How can non-immune hemolytic anemia be further classified?

Answer 7

inherited or acquired

Question 8

HbS

Answer 8

form of hemoglobin found in individuals with sickle cell

polymerizes in low O2 conditions

Question 9

anisocytosis

Answer 9

have 2 populations of RBCs with markedly different size

Question 10

What does anisocytosis correspond to?

Answer 10

large RDW

Question 11

What does an increased retic indicate?

Answer 11

there is no production problem

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

Question 12

What further classification should hemolytic anemia be broken into?

Answer 12

auto-immune or non-immune

Question 13

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

Answer 13

look at the DAT

Question 14

+ DAT

Answer 14

indicates immune hemolytic anemia

Question 15

What does a low retic indicate?

Answer 15

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

Question 16

When is there a concern for malignancy?

Answer 16

when there is low retic but still elevated MCV

Question 17

Hematocrit

Answer 17

what % of blood is RBC

Question 18

Relationship between hemoglobin and hematocrit

Answer 18

Hematocrit is 3x hemoglobin

Question 19

Effects of reticulocytes on MCV

Answer 19

they drive MCV up since they are slightly larger

Question 20

RDW

Answer 20

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

Question 21

Shistocyte

Answer 21

fragement of RBC

is very microcytic

Question 22

What is thalassemia?

Answer 22

abnormal ratios of alpha/beta chains

Question 23

Which configuration of alpha-thalassemia is more dangerous?

Answer 23

cis configuration

Question 24

When in HbA2 increased?

Answer 24

in people with B-thalassemia

Question 25

HbA2

Answer 25

two alpha and two delta chains see this form in B-thalassemia when the beta chains normally in HbA are affected

Question 26

B-thalassemia affects which chain?

Answer 26

beta chains

Question 27

A-thalassemia affects which chain?

Answer 27

alpha chain

Question 28

What is sickle cell an example of?

Answer 28

protein aggregation disease

Question 29

Where do post-translation modifications like glycoslation occur?

Answer 29

in the golgi

Question 30

What does SRP do?

Answer 30

says if ribosome should go to the ER

Question 31

protein aggregation disease

Answer 31

misfolding causing aggregation ex: Parkinson's, Alzheimer, Huntington's

Question 32

What is mutated in sickle cell?

Answer 32

glutamine to valine

Question 33

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

Answer 33

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

Question 34

Where is nucleotide repeat expansion in Huntington's?

Answer 34

PolyQ expands glutamine in coding region

Question 35

Where is nucleotide repeat expansion in Fragile X?

Answer 35

expansion in 5' UTR leads to increased methylation / silencing

Question 36

halposufficiency

Answer 36

a single copy of the gene is enough to maintain normal function disease is recessive to normal gene ex: Cystic Fibrosis

Question 37

haploinsufficiency

Answer 37

a single copy of a normal gene cannot maintain normal function disease in dominant over normal gene ex: hypercholesterolemia

Question 38

Gain of function mutation

Answer 38

affects heterozygotes is dominant / haploinsufficient

Question 39

Why is sickle cell autosomal recessive?

Answer 39

haplosufficient one normal gene in heterozygotes can maintain normal function therefore, you need two copies of missense allele to form mutation

Question 40

mutation in sickle cell

Answer 40

missense mutation of glutamine to valine

Question 41

What is the primary antioxidant in RBCs?

Answer 41

glutathione

Question 42

G6PD

Answer 42

enzyme that normally produces NADPH

Question 43

What does NADPH do?

Answer 43

regenerates and preserves reduced form of glutathione

Question 44

In G6PD deficiency what happens?

Answer 44

you can't regenerate glutathione, so there is nothing to detoxify free radicals lack of glutathione means that RBC will have to be hemolyzed

Question 45

When does B-thalassemia present? Why?

Answer 45

a couple months into life the protective effects of HbF wane you should produce HbA but the beta chains are affected

Question 46

What tells you if anemia is hypoproliferative or hyperproliferative?

Answer 46

the retic

Question 47

How much should total body stores of iron be?

Answer 47

3 grams

Question 48

How much iron does GI tract take in daily?

Answer 48

1-2 mg

Question 49

What happens when hepcidin is downregulated?

Answer 49

ferratin is uptaken into cells during iron deficiency

Question 50

Where does majority of serum transferrin deposit Fe?

Answer 50

into the bone marrow deposits 20 mg from plasma to bone marrow bone marrow places Fe on new RBCs

Question 51

What organ delivers some serum transferrin back?

Answer 51

spleen deposits 18 mg from spleen to plasma

Question 52

Where is a majority of iron stored?

Answer 52

liver