4. SCD - Clinical effects + Treatment Flashcards

1
Q

how come chronic anaemia is less apparent in young

A

can adapt by increased heart output

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2
Q

why limited life expectancy

A

as get older, chronic anaemia causes heart and lung problems + repeated crises

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3
Q

Dactylitis

A
  • severe swelling of hand
  • cold weather triggers it
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4
Q

how can it cause skeletal deformity

A
  • blocked vessels that supply growth plate
  • can cause shortened metacarpal bone
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5
Q

stroke

A

if blockage occurs in brain, can cause stroke
requires intensive treatment

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6
Q

why scd highly prone to infection

A

spleen prone to sickling = fibrosis and calcification = spleen protects from infection

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7
Q

how can lung infection cause chest crisis

A

blood vessels in that area obstructed with neutrophils/bacteria
blood not reoxygenated properly
(pain can prevent full breaths)

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8
Q

mild crisis case treatment

A
  • pain relief
  • hydration
  • treat causes such as fever or infection
  • if serious then send hospital
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9
Q

treatment of crisis if case is more severe

A
  • transfusion
  • exchange transfusion
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10
Q

long term treatments

A
  1. Preventative:
    - education
    - vaccination
    - antibiotics
    - folic acid
  2. Modifying RBC
    - raise HbF
  3. Severe cases
    - chronic transfusion
    - bone marrow transplants
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11
Q

which drug can increase HbF levels

A

hydroxycarbamide

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12
Q

4 types of experimental therapy

A
  • gene therapy
  • anti-sickling molecules
  • anti adhesion molecules
  • modifying vascular tone
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13
Q

low cost treatments

A
  • screening
  • education
  • folic acid
  • vaccination, antibiotics
  • malaria treatment
  • hydroxycarbamide (bit more spenny)
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14
Q

what can choice of diagnosis type depend on

A
  • speed
  • accuracy
  • expertise
  • throughput
  • cost
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15
Q

blood smear adv + disadv

A
  • cheap and fairly quick

BUT
- need expertise
- some healthy patients have rare sickle cells
- can have multiple other problems affecting cell appearance

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16
Q

haemoglobin solubility test

A
  • detergent added to lyse cells
  • add reducing afent
  • Hb forms clear suspension of monomers
    BUT
  • sickle Hb is cloudy cuz of polymers
17
Q

Hb polymerisation adv and disadv

A
  • cheap, quick, little training
    BUT
  • doesnt distinguish homo or het zygous

= used preoperative

18
Q

flat bed electrophoresis as diagnostic

A

charged Hb moves faster than uncharged
- normal Hb at bottom
- het has one normal and one slow moving
- homo will move all slow rate

19
Q

alternative to flat bed gel

A

high pressure column chromatography

20
Q

charge based diagnostic adv and disadv

A
  • accurate
  • intermediate cost
    -good for complex cases
  • can be scaled up for large number of samples
    BUT
  • not as quick
  • needs expertise
21
Q

genetic testing adv and disadv

A
  • accurate, useful in complex cases
    BUT
  • costly
  • takes long
  • expertise