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Haem/Onc > Hemoglobinopathies, ASPHO > Flashcards

Hemoglobinopathies, ASPHO Flashcards

1
Q

beta globin on chrom?

A

11

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2
Q

alpha globin on chrom?

A

16

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3
Q

hgb a2 made of?

A

alpha 2 delta 2

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4
Q

fetal hgb made of?

A

alpha 2 gamma 2

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5
Q

hgb barts made of?

A

gamma 4

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6
Q

hgb H made of?

A

beta4

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7
Q

prenatal hgb?

A

gower

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8
Q

alpha globin starts early in the ___ period, as does ____. the latter starts to decrease ___ birth and is very low by __ weeks postnally

A

fetal; gamma; before; 12

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9
Q

when does beta globin start being made? really becomes prominent when?

A

early in fetal life, but rises much more slowly than alpha….prominent at 12 weeks of life

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10
Q

delta globin:low levels, mostly present when?

A

postnatal life

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11
Q

under what circumstances does Hgb S polymerize?

A

deoxygenated state

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12
Q

most common type of sickel cell diseae?

A

hgb SS, also most severe

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13
Q

other than hgbss, 3 other types of SCD…which one is most severe?

A

hgb SC, hgb SBeta +, hgbSBeta null…hgb S Beta null= most severe

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14
Q

what’s common in hgb SC?

A

retinopathy! splenic infarction

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15
Q

life expectancy for hgb SS?

A

50s

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16
Q

dx scd how?

A
  • hgb electrophoresis
  • isoelectric focusing
  • high perforamnce liquid chromatogrpahy
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17
Q

hgb S point mutation?

A

glutamine-> valine

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18
Q

3 places where Hgb S seen?

A

africa, india, mediterranean

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19
Q

hgb E seen wehre?

A

southeast asia

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20
Q

list 7 complciations of SCD

A 
hemolysis 
juandice
gall stones
pain
priapism
stroke
ACS
splenic seq
spleen damage
brain damage
kidney damage
etc
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21
Q

list 5 neuro complications in scd

A 
overt stroke
silent cerebral infraction
TIA
cognitive impairemnt
reversible posterior luekoencephalopathy
occlusive cerebral vasculopathy
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22
Q

recurrence rate of overt stroke in SCD?

A

50-90%

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23
Q

primary prevention of stroke in SCD?

A

chronic transfusion (STOP I and II trials)–> HU (twitch trial)

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24
Q

secondary prevention of stroke in SCD?

A

chronic transfusion only (swtich trila)

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25
Q

silent stroke 2ndry prevention?

A

chronic transfusion= SIT trial

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26
Q

do TCD when?

A

yearly age 2-16

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27
Q

TCD results?

A

normal <170 cm/s2; conditional 170-<200; abnoraml 200+

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28
Q

risk of stroke for abN TCD?

A

10% per year for next 3 years

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29
Q

what did twitch trail show?

A

HU is non inferior to chronic transfusion therapy…so for pts with abnormal TCD velocities, can transiton to HU from CT after 12 months (if no severe vasculopathy on MRA)

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30
Q

how to manage overt stroke?

A

O2
avoid delays to transfusion
erythrocytapheresis likely better than simple transfusion
can give reg transfusoin if hgb <90 while waiting fro erythrocytapehresis

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31
Q

secondary stroke prevention?

A

chronci transfusion therapy

stem cell transplant

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32
Q

what did switch trial show?

A

chronci transfusions adn cheleation better than HU adn phlebotomy for secondary stroke prevnetion

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33
Q

hyposplenism starts when in hgbss?

A

3 months of age

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34
Q

4 things to say when counseling parent re: hyposplenism in SCD?

A
  • starts young (3 months of age)
  • risk of bacterial sespsis (encapsulated orgs)
  • reason for newborn screening
  • reason for ppx penicillin
  • immunizations important!
  • empiric maangement for fever!
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35
Q

splenic sequestration: do what iwth parents? possible tx?

A
  • teach them to palpate spleen

- splenectomy may be needed for severe and/or recurrent episodes

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36
Q

do waht for SCD patient presenting with fever?

A

focused hx and phys
CBC, retic, blood culture
IV antibiotics (ceftriaxone)
admission if toxic, altered mental status, temp>39.5, age<1 yr, recent missed PCN, pulm infiltrates, WBC >30, plts<150, hgb<60, history of sepsis, non-adherence

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37
Q

if discharging SCD with fever from Er do what?

A
  • observation x 30 min after ceftriaxone

- ensure follow up of pt and culture

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38
Q

ddx for acute anemia in SCD?

A

splenic seq, aplastic crisis

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39
Q

aplstic crisis in SCD caused by?

A

parvovrius

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40
Q

diffs between aplastic crsisi and splenic seq?

A
  • splenomeg in splenic seq
  • low retics for aplastic vs high in seq
  • nucleated RBCs in seq
  • low plts in seq
  • decreaesd jaudncie in aplastic
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41
Q

pain triggers in SCD?

A

infection
inflamm
cooling of skin
stress

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42
Q

prevent pain crises how?

A

avoid dehydration, cooling of skin, overexterion, over-heating

  • HU
  • crizanlizumab
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43
Q

5 pts for managing pain crisis?

A
  • NSAIDs, opiates
  • warm crompresses, relax, massages
  • correct dehydration (avoid over hydration)
  • incentive spirometry to prevent ACS
  • vigilance for fever adn ACS
  • laxatives for opaites
  • anti-pruritcs for opiates
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44
Q

causes of ACS? (4)

A 
infection
pulm vasc occ
hypoventilation/atelectasis
pulm edema
bronchospasm
45
Q

antibiotics for ACS?

A

ceftriaxone + azithromycin

46
Q

role of transfusion for ACS?

A

simple if hypoxic
exhcnage if severe
pre-op role for prevention

47
Q

other than antibiotics and transfusion how else to tx ACS?

A 
O2
maintain normal hydration
pain control
bronchodilators for wheezing
support vent
48
Q

manage priapism how?

A 
oral pain meds
oral hydration
warm bath/shower
urination
oral pseudoephedrine
if prolonged:
IV pain meds
IV hydration
oral pseudoephedrine
rapid aspiration adn irrigiation
avoid transfusions
49
Q

avoid priapisim how?

A

nightly psuedoephedrine
leuprolide
bicalutamide

50
Q

long term complciations of SCD? 5

A 
retinopathy
AVN
cardiomyopathy
pulm htn
CLD
renal failure/insuff
progressively severe anemia in adults
51
Q

5 renals complications in SCD?

A 
polyuria
proteinuria
renal tubular acidosis
gross hematuria
ESRD
hypothesnuria
52
Q

indications for HU?

A

HbSS/Sbeta null from age 9mos

53
Q

HU dose?

A

20 mg/kg adn increase over 2-3 mos

54
Q

what is endari?

A

l-glutamine…fro SCD pts 5. yrs +…BID dosing..decreases pain crises

55
Q

what’s oxbryta?

A

voxelotor…for pts with SCD aged 12+: inhibits HbS polymerizataion by incrasing its O2 affinity–> increase hgb

56
Q

adakveo is waht?

A

crizanlizumab..for scd pts 16+…inhibits p-selectin on endothelial cells–> keeps WBC, RBC and plts from sticking together…has to be given IV…at first q2 weeks–> then q4 weeks…less pain crises

57
Q

avoid transfusing hgb over what in SCD? hct?

A

hgb>100; hct>30

58
Q

indications for exchange transfusion in SCD?

A

acute stroke
severe ACS
rapid clinical deterioation
high hgb concetnraion (>90)

59
Q

indications for chronic transfuiosn in scd? (3)

A

stroke
recurrent ACS
frequent pain

60
Q

chronic transfusions done how often in SCD?

A

q4-6 weeks x 6 months +

61
Q

main complicatins fo CTs in SCD?

A

iron overload
alloimmunization
infection- transfusion related, vasc access

62
Q

indications for SCT in SCD?

A

Hb SS or S beta 0 <16 years

  • stroke or CNS event >24 h
  • impaired neuropsych function with abN brain MRI
  • recurrent ACS
  • Stage I or II sickle lung disease
  • recurrent painful episdoes
63
Q

sickle cell trait: how much hgb S?

A

<50%

64
Q

issues in sickel cell trait?

A
  • splenic infarct at high altitutde
  • increase risk of PE
  • inceasesed CKD
  • renal medullary carcinoma
65
Q

hgb C =?

A

homozyg hb cc

  • no sickling
  • chronic hemolytic anemia, no transfusions
66
Q

hgb E=? common where?

A

glu-> lys

SE Asia

67
Q

Hb E trait: main hgb? features?

A

A>E

low MCV, targte cells

68
Q

Hb E diseae: main hgb? features?

A

E; mild microcytic anemia, target cells

69
Q

Hb E/Beta + thal: main hgb, features?

A

E>A; beta thal minor to intermed

70
Q

Hb E/beta 0thal: main hgb, features?

A

E; beta thal intermedia to major

71
Q

hbconstant spring?

A

qual alpha globin mut…like hgb h diseaes (missing 3 normal alphas, but here 2 gene deletion and 1 gene abnormal with constant spring)

72
Q

pathophys of thal?

A

decreased production of alpha or beta globins–> imbalance between alpha and beta–> glboins in excess precipitate and damange the RBC membrane–> ineffective erythropoieisis–>anemia, BM explanstion, extramedullary hematopoesisi, increased intestinal Fe abs

73
Q

thal seen wehre?

A

africa, mediterranean, SE asia

74
Q

beta thal trait: hgb F level? hgb A2 level?

A

f: normal or high
a2: increased (because excess alpha)

75
Q

alpha thal trait: hgb F level? A2 level?

A

F: normal (0-2)
A2: normal or decreased (0-2.5%)

76
Q

iron def aenmai: hgb f? a2?

A

f normal

a2 normal or low

77
Q

normal a2 level?

A

2-3%

78
Q

aa/a- = ?

A

silent carrier

79
Q

–/aa and a-/a TRANS-=?

A

thal trait

80
Q

–/a-?

A

hgb h disease

81
Q

–/aCSa

A

hgb h constant spring

82
Q

–/–?

A

hydrops fetalis

83
Q

diff between having 2 parents with trans a-/a- vs cis deletions –/aa?

A

with cis, chance of –/–= thal major

84
Q

features of alpha thal trait?

A

mcv low
mild anemia 110-110
hypochromia

85
Q

Hb H hgb level?

A

60-90…not tranfusion dep but intermittently

86
Q

beta null inndicates

A

large mut

87
Q

bta + indicates

A

point mutations

88
Q

genotypes in beta thal trait?

A

b/b+or b/b0

89
Q

hgb level in beta thal trait?

A

midl to no anemia: 100-120

MCV 65-75

90
Q

hb a2 in beta thal trait? hgb f?

A

a2 increased

f sometimes increased

91
Q

genotypes in beta thal intermedia?

A

b+/b+.B+/b0, be/b+, be/b0

92
Q

see waht in neoantes with beta thal intermedia?

A

gamma is the predom beta-like globin

93
Q

mcv in beta thal intermed?

A

50-65

94
Q

hb a2 in beta thal intermed?

f in beta thal intermed?

A

both increased

95
Q

beta thal major: genotype?

A

b0b/0

96
Q

see waht in neonates with beta thal major?

A

normal counts but hgb F only

97
Q

what’s delta beta thal?

A

if you have del of delta nd beta, won’t be able to make A2 (or A).

98
Q

what’s hgb lepore?

A

DNA between delta and beta gone–> get delta beta fusion

Hemoglobin (Hb) Lepore is composed of two normal α chains and two δβ fusion globins that arise from unequal crossover events between the δ- and β-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups.

99
Q

delta beta 0-HPFH vs. delta beta0?

A

if HPFH version, normal peripheral phenotype: no low MCV, no hypochromia

100
Q

Hb H/Cs is __ than Hb H alone

A

worse

101
Q

beta thal pts: tx?

A

SCT
chronic transfusions to keep hb 9-10
iron chelation

102
Q

organs taht accum iron?

A 
liver
heart
pituitary (hypogonad, hypot4)
pancrase (DM)
parathyroid gland--> low ca
skin: hpyerpigm
103
Q

ways to dx fe overload?

A

serum ferritin
liver bx
MRI

104
Q

manage Fe overlaod how?

A

chelation
red cell exchange
phlebotomy

105
Q

start chelation wehn?

A

120-200 ml/kg has been transfused…LIC >5-7 mg/g and/or ferriting >1500-2000…often wait til pt >2 yrs

106
Q

3 fe chelators?

A

deferasirox
deferiprone
deferoxamine

107
Q

deferasirox:
admin route?
main tox?
monitor how?

A

oral
GI, hepatic, renal
monthly ferritin, LFTs, BUN/creat, urine prot: creat

108
Q

deferiprone:
admin route?
main tox?
monitor how?

A

oral
neutropenia
baseline adn weekly ANC, montly ferritn, LFTs

109
Q

deferoxamine: admin route?
main tox?
montiroing?

A
  • SC or IV, 5-7 nigths/week
  • ocular, otic, bony
  • mnthly ferriting, LFts, BUN/creat, urine prot: creat; yearly eye exam and audiogram, consdier yearly bone density

Haem/Onc (30 decks)

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