Sickle Syndromes - study Flashcards

1
Q

what are sickle syndromes

A

group of genetic disorders that affect the structure of haemoglobin, resulting in the production of HbS

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2
Q

what type of mutation in what codon in what gene causes sickle?

A

point mutation in codon 6 of the beta globin gene

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3
Q

if someone has sickle cell trait, when might they sickle

A

severe hypoxia e.g. high altitude, under anaesthesia

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4
Q

sickle cell trait (HbAS) blood film

A

normal

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5
Q

what is the diagnosis: HbS >80%, no HbA

A

sickle cell anaemia (HbSS)

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6
Q

in sickle disease - what is it called when episodes of tissue infarction occur due to vascular occlusion

A

sickle crisis

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7
Q

what is sickle crisis

A

episodes of tissue infarction due to vascular occlusion

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8
Q

clinical features of sickle cell anaemia

A
  • vaso-occlusive crises
  • acute chest syndrome
  • pulmonary hypertension
  • anaemia
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9
Q

investigations

A

bloods: FBC, Hb, red cell indices, blood film

high performance liquid chromatography (HPLC) or electrophoresis

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10
Q

management of a sickle crisis

A

treatments include:
- high flow oxygen

  • IV fluids and opiate analgesia
  • red cell exchange transfusion in severe crisis e.g. chest crisis (lung) or brain (stroke)
  • antibiotics if evidence of infection
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11
Q

which vaccinations are given to sickle cell anaemia patients

A
  • pneumococcus
  • meningococcus
  • haemophilus
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12
Q

how does hydroxycarbamide work in sickle cell anaemia

A

increases foetal haemoglobin concentrations

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13
Q

is hydroxycarbamide teratogenic

A

yes potentially

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14
Q

newer therapies for long term management of sickle cell anaemia

A
  • Crizaniluzumab (p-selectin inhibitor) for treatment of pain crises
  • voxelotor (haemoglobin oxygen-affinity modulator) for haemolytic complications
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