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Year 2 Heme lymph > RBC I, Thalassemias and hemolytic anemias Putthoff > Flashcards

RBC I, Thalassemias and hemolytic anemias Putthoff Flashcards

1
Q

where are alpha chain encoded

A

chromosome 16

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2
Q

where are the beta chains encoded

A

chromosome 11

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3
Q

where are thalassemias endemic to

A

mediterranean basin

tropical africa, indian continent and asia

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4
Q

how do thalassemias cause anemia (generally)

A

decreased production and lifespan

not destruction

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5
Q

What are the B0 mutations

A

no beta globin synthesis

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6
Q

what are the B+ mutation

A

reduced beta globin synthesis

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7
Q

most common cause of beta+ mutations

A

splicing mutations that affect the RNA

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8
Q

common mutations with B0 thalassemias

A

prevention mRNA

chain terminator mutations (new stop codon)

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9
Q

how does beta thalassemia cause anemia

A

deficit in HbA synthesis
hypochromic microcytic RBC with subnormal O2
diminished survival of RBC and precursors
unpaired alpha chains make insoluble inclusions

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10
Q

how does beta thalassemia lead to bony abnormalities

A

ineffective erythropoiesis leads to erythroid hyperplasia and extensive EMH

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11
Q

why do thalassemia patients suffer from hemochromatosis

A

the erythroid drive suppresses hepcidin so no neg feedback on Fe absorption. absorb more leads to iron accumulation

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12
Q

why is a defect in beta and alppha chain not as severe as say 2 defects in beta or 2 defects in alpha

A

chain production is more in balance

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13
Q

what is beta thalassemia major

A

homozygou so could be B0B0 or b+b+ or b+b0

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14
Q

what is beta thalassemia intermedia

A

B0B+ b+b+ B0B b+B
variable
severe but does not require blood transfusions

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15
Q

what is beta thalssemia minor

A

heterozygous b0 B b+B

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16
Q

what is clinical presentation of beta thalassemia minor

A

asymptomatic with mild or absent anemia, red cell abnormalities seen.

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17
Q

when does anemia manifest in beta thalassemia major in newborns

A

6-p mo when HbF switches over to HbA

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18
Q

What do RBC look like in beta thalassemia major

A

anisocytosis poikilocytosis, microcytosis, hypochromic
target cells
basophilic stippling and fragmented cells
inclusions are aggregates of alpha chains

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19
Q

clinical cours of beta thalassemia major

A

brief unless receiving blood transfusions

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20
Q

signs of beta thalssemia major

A

anemia
enlarged and distorted boney prominences
HSM
cardiac disease from hemochromatosis

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21
Q

how do you Tx patients with beta thalassemia major

A

transfusion but must also give iron chelators to prevent hemochromatosis

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22
Q

what will PS look like in beta thalssemia minor

A

RBC abnormalities like hypochromia, microcytosis, basophilic stippling and target cells
mild erythroid hyperplasia in BM

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23
Q

what will Hb electrophoresis show in beta thalassemia minor

A

increase HbA2 and normal or slightly increased HbF

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24
Q

Wgat dies beta thalssemia minor look like and how do you diferentiate

A

iron deficiency anemia
look at iron panel
also increase in HbA2 helpful

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25
Q

severity of alpha thalssemia depends on what

A

how many alpha globin genes are affected

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26
Q

what is Hb barts

A

gamma globin tetramers in newborns with alpha thalassemia

27
Q

how does alpha thalassemia present in older children and adults

A

HbH

beta tetramers

28
Q

why in HbH is anemia less severe

A

the beta tetramers are more soluble than alpha

29
Q

what is most common cause of reduced alpha chain synthesis

A

gene deletion

30
Q

what is silent carrier state alpha thalassemia

A

-/a a/a

no RBC abnormality

31
Q

what are the alpha thalassemia trait varieties

A
  • /- a/a (asian)

- /a -/a (black, asian)

32
Q

what are signs of alpha thalassemia trait

A

microcytosis
minimal or no anemia
no abnormal physical sings
low HbA2 or normal

33
Q

What is genotype for HbH disease

34
Q

HbH most common in what population

35
Q

why is there hypoxia when there are tetramers of beta globins HbH

A

because has extremely high affinity for O2, does not release

leads to oxidation and promotes RBC sequestration and phagocytosis

36
Q

clinical signs HbH

A

severe anemia

37
Q

what is hydrops fetalis

A

-/- -/- no alpha globin chain synthesis
lethal in utero
distress in 3rd trimester

38
Q

clinical signs of fetus with hydrops fetalis

A

pallor, generalized edema, massive HSM

39
Q

What is Paroxysmal nocturnal Hbinuria

A

disease from mutations in PIGA enzyme essential for synthesis of MAC regulatory proteins

40
Q

what is the only hemolytic anemia caused by acquired genetic defect

41
Q

what are PNH blood cells deficient in

A

3 GPI-linked proteins that regulate C’ activity

CD55 CD59 and C8

42
Q

what is inheritance of PNH

43
Q

RBC in PNH are prone to what

A

injury by C’ or lysis

intravascular from MAC attack

44
Q

typical presentation PNH

A

chronic hemolysis without dramatic Hburia

at night because blood pH drops at night which increases C’ activity

45
Q

what is leading cause of deat in individuals with PNH

A

thrombosis

venous- hepatic or cerebral

46
Q

what neoplasias are PNH assoc with

A

myelodysplastic syndrome and acute myeloid leukemia

47
Q

What do we detect on flow cytometry for PNH

48
Q

Tx for PNH

A

eculizumab to prevent conversion of C5 to C5a

reducing thrombosis by 90%

49
Q

eculizumab increases risk for what

A

serious or fatal meningococal infections

50
Q

what characterizes immunohemolytic annemias

A

Ab that bind to RBC leading to premature destruction

51
Q

Describe warm Ab type immunohemolytic anemia

A

IgG
can be primary (idiopathic)
secondary (SLE) (drugs lymphoid neoplasms)

52
Q

describe cold agglutinin type immunohemolytic anemia

A

IgM (active below 37C)
acute (mycoplasmal infection, infectious mononucleosis)
chronic: idiopathic, lymphoid neoplasms

53
Q

describe cold hemolysin type immunohemolytic anemia

A

IgG active below 37

rare- children after viral infection

54
Q

how do you Dx immunohemolytic anemia

A

direct Coombs antiglobulin test

55
Q

what is indirect Coombs antiglobulin test used for

A

to charcterize the Ag target and temperature dependence of Ab

56
Q

what is most common form immunohemolytic anemia

A

warm Ab type

57
Q

types of drug induced warm hemolytic anemia

A

antigenic drugs that promote extravascular hemolysis by acting like opsonins
tolerance breaking drugs that create autoAb

58
Q

example of tolerance breaking drug that can lead to autoAb against RBC

A

alpha methlydopa

59
Q

clinical symptoms of cold agglutinin hemolytic anemia

A

pallor cyanosis and raynaud phenomenon

exposed areas like finger toes, nose etc

60
Q

what is paroxysmal cold hemoglobinuria

A

rare disorder that can cause fatal intravascular hemolysis

type of cold hemolysin type hemolytic anemia

61
Q

most significant hemolysis caused by trauma to rBC is seen in what individuals

A

cardiac valve prostheses and microangiopathic disorders

62
Q

what is microangiopathic hemolytic anemia seen in

A 
DIC
TTP
HUS
malignant HTN
SLE
disseminated cancer
63
Q

cause of RBC damage in microangiopathic disorders

A

luminal narrowing form fibrosis or other stuff causing damage to RBC

64
Q

what do rBC look like after damage

A 
schistocytes
RBC fragments
"burr cells"
"helmet cells"
"triangle cells"

Year 2 Heme lymph (28 decks)

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