Beta thalassaemia

Question 1

Definition- major, minor, carrier

Answer 1

Major (homozygous)- >7 transfusions/year
Minor(heterozygous)- <7 tx
Carrier- no tx

Question 2

2ndary complications

Answer 2

Cardiac, hepatic, renal iron overload
Ant pituitary dysfunction- delayed puberty, subfertility

Question 3

Pre-conception counselling

Answer 3

• Contraception use and plan preg
• Review tx requirements
• Assessment of iron overload
• Aggressive chelation if needed to optimise iron burden
• Stop deferasirox and deferiprone 3 months before

Question 4

Pre-conception tests

Answer 4

• Echo + ECG and T2 MRI- low EF or MRI <10 is contraindication for preg
• Partner testing
• If diabetic, optimize control
• Thyroid- check and treat
• Liver- Ferriscan- dry wt <7mg/g
• Bone density- to check for osteoporosis
• Give folic acid 5mg

Question 5

Vaccinations +abx

Answer 5

• Hep B, check Hep C status
• Splenectomy pt’s- Pneumococcus and heamophilus influenza tye b vaccine
  +
  Abx prophylaxsis- Penicillin

Question 6

Diabetes screening in B thal

Answer 6

• Check serum fructosamine <300nmol
  (HbA1c is diluted by transfusion)

Question 7

Chelation during preg

Answer 7

• Chelation only in 2nd and 3rd T - Desferrioxamine

Question 8

AN care

Answer 8

• Joint heam care
• Rv every 4 weeks till 28 weeks
• Rv every 2 weeks after that

Question 9

Diabetes in AN period

Answer 9

• Monthly fructosamine level

Question 10

Cardiac assessment

Answer 10

• after 28 weeks for Thal major
• Might need MRI
• Chelation if signs of decompensation
• Helpful to plan chelation/labour

Question 11

Scans in preg

Answer 11

• Early scan (7-9w)
• Dating scan (11-14w)
• Anomaly scan (18-20w)
• Serial scans - every 4w from 24w

Question 12

Transfusion in preg

Answer 12

• Thal major- Regular tx, aim Hb 100 pre-tx
• Thal intermedia- Tx if maternal anaemia or FGR

Question 13

VTE

Answer 13

• thal + splenectomy OR plts >600- Low dose aspirin 75mg
• Thal + splenectomy + plts >600- LWMH + aspirin 75mg

Question 14

Delivery

Answer 14

• Del on LW
• Timing based on complications
• Transfuse if Hb <100
• G+S, x-match if antibodies present
• Active mx of 3rd stage

Thal Major- Give desferrioxamine 2g in 24h of labour

Question 15

PN

Answer 15

• Can breastfeed
• Cont desferrioxamine till discharge then usual regeime
• If BF- cont desferrioxamine
• VTE- LMWH 7 days for SVD
• 6 weeks for CS