Paeds: haem

Question 1

Sickle Cell Anaemia

inheritance pattern

Answer 1

autosomal recessive

Question 2

Sickle Cell Anaemia

where is the abnormal gene

Answer 2

abnormal gene for beta-globin on chromosome 11

Question 3

Sickle Cell Anaemia

what variant of Hb do pts have

Answer 3

haemoglobin S (HbS)

Question 4

Sickle Cell Anaemia

in normal pts, when does HbA replace HbF

Answer 4

around 6w of age

Question 5

Sickle Cell Anaemia

what is the relationship between this and malaria

Answer 5

having sickle-cell trait reduces the severity of malaria

Question 6

Sickle Cell Anaemia

when is sickle cell disease tested

Answer 6

newborn screening heel prick test at 5 days of age

or Pregnant women at risk of being carriers of the sickle cell gene

Question 7

Sickle Cell Anaemia

complications

Answer 7

• Anaemia
• Increased risk of infection
• Stroke
• Avascular necrosis in large joints such as the hip
• Pulmonary hypertension
• Painful and persistent penile erection (priapism)
• Chronic kidney disease
• Sickle cell crises
• Acute chest syndrome

Question 8

Sickle Cell Anaemia

general mnx

Answer 8

• Avoid dehydration and other triggers of crises
• Ensure vaccines are up to date
• Abx prophylaxis to protect against infection, (phenoxymethypenicillin)
• Hydroxycarbamide: stimulates production of HbF (does not lead to sickling of RBCs)
• Blood transfusion for severe anaemia
• Bone marrow transplant can be curative

Question 9

Sickle Cell Anaemia

what is Sickle Cell Crisis

Answer 9

an umbrella term for a spectrum of acute crises related to the condition

can occur spontaneously or be triggered by stresses such as infection, dehydration, cold or significant life events.

Question 10

Sickle Cell Anaemia

name some Sickle Cell Crisis’

Answer 10

• Vaso-occlusive Crisis (AKA painful crisis)
• Splenic Sequestration Crisis
• Aplastic Crisis
• Acute Chest Syndrome

Question 11

Sickle Cell Anaemia

mnx for sickle cell crises

Answer 11

supportive:

• low threshold for admission
• treat any infection
• keep warm
• well hydrated
• analgesia
• penile aspiration for priapism

Question 12

Sickle Cell Anaemia

sickle cell crises: what causes Vaso-occlusive Crisis (AKA painful crisis)

Answer 12

the sickle shaped blood cells clogging capillaries and causing distal ischaemia

Question 13

Sickle Cell Anaemia

sickle cell crises: signs + symptoms of Vaso-occlusive Crisis (AKA painful crisis)

Answer 13

• dehydration
• raised haematocrit
• pain
• fever
• priapism

Question 14

Sickle Cell Anaemia

how does vaso-occlusive crisis cause priapism is men

Answer 14

trapping blood in the penis, causing a painful and persistent erection.

Question 15

Sickle Cell Anaemia

mnx of priapism

Answer 15

urological emergency

treated with aspiration of blood from the penis

Question 16

Sickle Cell Anaemia

sickle cell crises: what causes splenic sequestration crisis

Answer 16

RBCs blocking blood flow within the spleen

Question 17

Sickle Cell Anaemia

sickle cell crises: signs and sx of Splenic Sequestration Crisis

Answer 17

• acutely enlarged and painful spleen

- severe anaemia _ hypovolaemic shock due to pooling of blood in spleen

Question 18

Sickle Cell Anaemia

sickle cell crises: mnx of Sequestration Crisis

Answer 18

emergency!

supportive:

• blood transfusions
• fluid resuscitation

Question 19

Sickle Cell Anaemia

sickle cell crises: what can prevent sequestration crisis

Answer 19

splenectomy

Question 20

Sickle Cell Anaemia

sickle cell crises: what can recurrent Splenic Sequestration Crisis lead to

Answer 20

splenic infarction, resulting in susceptibility to infections.

Question 21

Sickle Cell Anaemia

sickle cell crises: what is Aplastic crisis

Answer 21

temporary loss of the creation of new blood cells

Question 22

Sickle Cell Anaemia

sickle cell crises: what is Aplastic crisis commonly triggered by

Answer 22

parvovirus B19

Question 23

Sickle Cell Anaemia

sickle cell crises: what does Aplastic crisis lead to

Answer 23

significant anaemia

Question 24

Sickle Cell Anaemia

sickle cell crises: mnx of Aplastic crisis

Answer 24

supportive with blood transfusions if necessary

usually resolves spontaneously within a week.

Question 25

Sickle Cell Anaemia

sickle cell crises: what does a diagnosis of acute chest syndrome require

Answer 25

• fever or resp sx

and

• new infiltrates on CXR

Question 26

Sickle Cell Anaemia

sickle cell crises: what can acute chest syndrome be due to

Answer 26

infection (e.g. pneumonia or bronchiolitis)

or non-infective causes (e.g. pulmonary vaso-occlusion or fat emboli)

Question 27

Sickle Cell Anaemia

sickle cell crises: mnx of acute chest syndrome

Answer 27

medical emergency

• trx underlying cause
• abx/antivirals for infection
• blood transfusions for anaemia
  0 incentive spirometry: machine that encourages effective + deep breathing
• artificial ventilation with NIV or intubation