Haematological Diseases

Question 1

Beta thalassemia major management

Answer 1

Chromosome 11

Fatal without regular blood transfusions
Aim to maintain Hb >100g/L

Iron chelation (SC desferrioxamine or oral deferasirox) to prevent iron overload

Bone marrow transplant is only cure - restricted to children with HLA-identical siblings

Splenectomy may be required

Question 2

Trait beta thalassemia major

Answer 2

Heterozygous

Prenatal diagnosis via chorionic villus sampling
Genetic counselling and iron advice

Question 3

Bruising red flags for non-injury

Answer 3

On child who is not yet independently mobile

Large, multiple sites/clusters
Similar shape and size
Shape of hand, ligature, stick, tooth, grip or implement

Non-bony part of face or body

Explanation for bruise inexplicable, inadequate or inconsistent

Delay in presentation

Question 4

Bruising if no suspicious of NAI

Answer 4

Consider leukaemia if unexplained petechiae, hepatosplenomegaly, high WBC

Urgent referral for neuroblastoma if periorbital bruising, palpable abdominal mass

Question 5

Typical bleeding patterns site

Answer 5

Skin, mucus membrane (platelet)

Soft tissue, joint, muscle (coagulation factor)

Question 6

Typical bleeding patterns petechiae

Answer 6

Yes - platelet

No - coagulation factor

Question 7

Typical bleeding patterns eccymosis

Answer 7

Bruising

Small, superficial (platelet)

Large, deep (coagulation)

Question 8

Typical bleeding patterns muscle bleeding

Answer 8

No (platelet)

Yea (coagulation)

Question 9

Typical bleeding patterns bleeding after cuts

Answer 9

Yes (platelet)

No (coagulation)

Question 10

Typical bleeding patterns bleeding after surgery/trauma

Answer 10

Immediate (platelet)

Delayed (1-2 days) (coagulation)

Question 11

Typical bleeding patterns severity

Answer 11

Mild (platelet)

Severe (coagulation)

Question 12

Disseminated intravascular coagulation management

Answer 12

Treat underlying cause (usually sepsis)

Replacement therapy of platelet, coagulation factor and cryoprecipitate

Restore physiological coagulation pathways (heparin)

Antithrombin should NOT be used

Protein C may be used - purpura fulminans

Question 13

Chronic disseminated intravascular coagulation management

Answer 13

Heparin and tranexamic acid

Question 14

Disseminated intravascular coagulation bloods

Answer 14

Decreased platelets
Decreased fibrinogen
Increased PT and APTT
Increased fibrinogen degradation products

Question 15

G6PD deficiency management

Answer 15

Advise on signs of acute haemolysis (jaundice, pallor, dark urine)

Acute haemolysis - supportive and folic acid

Neonates with prolonged hyperbilirubinaemia - follow treatment graph for phototherapy and exchange transfusion

Question 16

Haemophilia A and B management

Answer 16

Acute bleeds - factor concentrate and anti-fibrinolytics (tranexamic acid) by prompt IV

Replacement therapy given at home

Prophylactic factor 8 - severe haemophilia A
Desmopressin- mild haemophilia A

Question 17

Haemophilia A and B avoided

Answer 17

IM
Aspirin
NSAID

Question 18

Haemophilia A management

Answer 18

Recombinant factor VIII

Question 19

Haemophilia B management

Answer 19

Recombinant factor IX

Question 20

Hereditary spherocytosis management

Answer 20

Neonates - supportive +/- red blood cell transfusion, folic acid supplementation

Children - supportive +/- red blood transfusion, folic acid supplementation, splenectomy may be considered, cholecystectomy may be performed, pneumococcal prophylaxis

Aplastic crisis is caused by parvovirus B19 and required blood transfusion

Question 21

Immune thrombocytopenic purpura management

Answer 21

Life/organ threatening bleed - IVIG and corticosteroid and platelet transfusion and antifibrinolytics

Newly diagnosed asymptomatic or minor - observation, manifestation limited to skin

Newly diagnosed major - corticosteroids and IVIG or anti-D IV

Child with chronic disease - mycophenolate mofetil and rituximab and eltrombopag

Question 22

Immune thrombocytopenia purpura general

Answer 22

Resolve spontaneously in 80%

Managed at home

Treatment indicated if there is evidence of major bleeding or persistent minor bleeding

Question 23

Iron deficiency anaemia management

Answer 23

Supplementation with oral ferrous sulphate- continued for 3 months after correction

Question 24

Iron deficiency anaemia advice

Answer 24

Discomfort minimised by taking supplement with food or reducing dose frequency

Question 25

Iron deficiency anaemia monitoring

Answer 25

Haemoglobin level after 2-4 weeks of treatment If risen sufficiently - check again at 2-4 months If not - address compliance Once normal - monitor every 3 months for a year, recheck after another year Prophylactic dose for those at risk

Question 26

Sick cells disease prophylaxis

Answer 26

Immunisation again encapsulated organisms (S. pneumoniae and H. Influenzae type B) Daily oral penicillin Daily oral folic acid Case-occlusive crises managed by avoiding exposure to cold, dehydration, excessive exercise, undue stress or hypoxia

Question 27

Sickle cell disease management of acute crises

Answer 27

Oral and IV morphine Hydration Infection treated with antibiotics Exchange transfusion indicated in acute chest syndrome, priapism and stroke

Question 28

Sickle cell disease management of chronic problems

Answer 28

Recurrent admissions can benefit from hydroxycarbamide - monitor for WBC suppression Splenectomy with immunisation against encapsulated organisms Bone marrow transplant indicated severe cases

Question 29

Sickle cell disease prognosis

Answer 29

Can cause premature death due to complications 50% with most severe form will die <40

Question 30

Von Willebrand Disease management

Answer 30

Depends on type and severity Type 1 - DDAVP, used with caution in <1 as can cause hypnatraemia More severe - plasma-derived factor 8 concentrate

Question 31

Von Willebrand disease to avoid

Answer 31

IM Aspirin NSAID