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Paediatrics > 1: Haematology - Sickle Cell Disease > Flashcards

1: Haematology - Sickle Cell Disease Flashcards

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1
Q

What is sickle cell disease

A

Autosomal recessive haemaglobinotpathy where individuals have HbSS

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2
Q

What is sickle cell trait

A

HbSA

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3
Q

What ethnicities is sickle cell more common

A

African-American

East- Medeteranian

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4
Q

What is the inheritance pattern of sickle cell

A

Autosomal Recessive

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5
Q

What causes sickle cell anaemia

A

Mutation in position-6, chromosome 11. Where valine replaces glutamic acid

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6
Q

What chromosome is affected in sickle cell anaemia

A

Chromosome 11

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7
Q

What amino acid is mutated in sickle cell anaemia

A

Valine replaces Glutamic acid

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8
Q

What kind of mutation happens in sickle cell

A

Non-conservative mis-sense mutation

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9
Q

What is a risk factor for sickle cell disease

A

FH

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10
Q

Explain advantage of sickle cell disease and trait

A

Sickle cell trait is advantageous against Malaria Falciparum

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11
Q

Explain presentation of sickle-cell

A

Sickle cell is characterised by period of good health with intervening crisis

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12
Q

What is vase-occlusive crisis also known as

A

Pain crisis

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13
Q

In which age group does vase-occlusive crisis usually present

A

Childhood

Adolescence

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14
Q

Explain presentation of vase-occlusive crisis in children

A

Presents with dactylitis and bone pain

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15
Q

What happens with vaso-occlusive crisis

A

Becomes more central with age can lead to acute chest syndrome and stroke

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16
Q

What is acute chest syndrome is type of

A

Vaso-occlsuive crisis

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17
Q

What are 3 triggers of vase-occlusive crisis

A

Dehydration
Infection
Deoxygenation

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18
Q

What is acute chest syndrome

A

When there is vaso-occlusion of pulmonary vasculature

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19
Q

How does acute chest syndrome present

A
  • Chest pain
  • Breathlessness
  • Reduced SpO2
  • Fever
  • Respiratory distress
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20
Q

What is the most common cause of death in sickle cell disease

A

Acute chest syndrome

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21
Q

What are 3 triggers of acute chest syndrome

A

GA
Asthma
Infection

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22
Q

What is splenic sequestration

A

Vaso-occlusion of spleen causes entrapment of blood and pooling of large amounts of blood in the spleen

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23
Q

In which age is splenic sequestration more common

A

First year of life

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24
Q

How does splenic sequestration present clinically

A
  • LUQ pain
  • Symptoms intravascular haemolysis: hypotension
  • Rapid anaemia
  • Reticulocytosis
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25
Aside from splenic sequestration, what other organs may be affected
Later liver and lung
26
What can splenic sequestration cause over time and what does this mean
Autosplenectomy: causes fibrosis of the spleen and necrosis. This means spleen cannot function predisposing to infection with capsulated bacteria
27
What are some capsulated bacteria
H. Influenza S. Pneumonia N. Meningitdis
28
What is an aplastic crisis
Sickle cell patient is infected with parvovirus B19
29
How does parvovirus B19 cause aplastic crisis
When parvovirus B19 infects reticulocytes it prevents proliferation.In normal individuals there is sufficient supply RBC to be asymptomatic. In sickle cell, as there is already haemolysis, can present with symptoms
30
When can sickle-cell cause stroke
Most common 5-10 years. Can occur up to 20 year-olds
31
What % of strokes in sickle-cell are asymptomatic
20%
32
How is stroke in sickle-cell disease managed
Plasma exchange transfusion
33
When does functional hyposplenism in sickle cell usually occur and what does this cause
By 1-year, predisposing to infection with capsulated bacteria
34
What % of individuals have priapism in sickle-cell
3-4% pre-pubertal | 40% post-pubertal
35
What MSK conditions can sickle-cell lead to
Avascular necrosis
36
What are two renal complications of sickle-cell
Papillary necrosis - causes haematuria Hyposthenuria = inability to concentrate urine
37
What are other complications of sickle-cell disease
Enlarged tonsillar- adenoids = can lead to OSA
38
How does sickle cell trait present
Asymptomatic, unless in low oxygen concentration
39
What is HbA (adult haemoglobin) made up of
HbA is made of two alpha and two beta chains
40
What mutation happens in sickle cell disease and what does this cause
Non conservative mis-sense mutation in position 6 at chromosome 11
41
What is a non-conservative mutation
New amino acid formed has different properties to other amino acid
42
What is a mis-sense mutation
single base substitution causes new amino acid
43
What base is substituted in sickle cell disease
Valine replaces glutamic acid in position 6
44
Is glutamic acid hydrophillic or hydrophobic
Hydrophilic
45
Is valine hyrophillic or hydrophobic
Hydrophobic
46
What does individual require for sickle cell
Two mutated B-globin genes to given HbSS
47
Explain traits of HbSS
HbSS is normal when oxygenated. However when deoxygenated it can aggregate together forming long polymers that distort RBC shape = sickling
48
What factors favour sickling
Favours the reduce affinity of Hb with oxygen including acidosis and low flow vessels
49
Explain impact of sickling
Repeated sickling causes damage to RBC membranes which triggers intravascular haemolysis.
50
What is an indicator of intravascular haemolysis
Low haptoglobin
51
Why is haptoglobin low in intravascular haemolysis
Hb released from RBC in intravascular haemolysis binds to haptoglobin
52
What type of bilirubin is present in intravascular haemolysis
Unconjugated bilirubin
53
What happens to bone marrow
Low Hb stimulates reticulocytosis of bone marrow which causes expansion of medullary (bone-marrow) cavities which can cause a hair on end appearance
54
What test is performed for all neonates in the UK
Neonatal heel prick test (5-9d)
55
If Gunthrie test is positive, what is performed
Hb Electrophoresis
56
What should happen to all afro-carribean individuals before surgery and why
Screen for sickle cell prior to giving GA - as can precipitate acute chest crisis
57
What screening happens in all individuals with sickle cell
Annual cranial US to check for high resistance - which can indicate stroke. If present require plasma exchange
58
What diagnostic tests may be ordered in sickle cell
FBC Peripheral Blood Smear Hb Electrophoresis
59
What will be seen on FBC in sickle cell
Anaemia | Reticulocytosis
60
What will be seen on peripheral blood smear in sickle cell
Howell Jolly Bodies
61
How is an acute crisis managed in sickle cell
- Oxygen - IV Fluids - Keep warm - Analgesia May require: - Exchange transfusion - Blood transfusion
62
When is exchange transfusion ordered
if acute chest syndrome, neurological complications
63
When is a blood transfusion ordered in sickle cell
aplastic anaemia
64
What is given as maintenance in sickle cell
hydroxyurea
65
What is the MOA of hydroxyurea in sickle cell
increases foetal Hb
66
What indicates compliance with hydroxyurea
Macrocytosis
67
What is a side-effect of hydroxyurea
Bobe marrow suppression
68
What is given as prophylaxis in sickle cell under 5-years old and why
Penicillin V = to prevent against infection with capsulated bacteria
69
What is given daily in sickle cell
Folic acid: to replenish RBC stores
70
What is the only curative treatment in sickle cell
Allogenic bone marrow transplant

Paediatrics (61 decks)

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