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Gaby’s Green Top Guidelines > 2014 66 β-thalassaemia > Flashcards

2014 66 β-thalassaemia Flashcards

1
Q

What is the difference between β-thalassaemia major, intermedia & minor?

A

Major: >7 transfusions a year
Homozygous
Intermedia: ≤7 transfusions a year
Compound heterozygous
Minor: no transfusions, carriers
Heterozygous

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2
Q

What is the pathophysiology in β-thalassaemia?

A

Reduced globin chain synthesis
Inadequate RBC Hb content
Damaged RBCs & erythroid precursors
Extravascular haemolysis
Anaemia, severity depending on zygosity

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3
Q

What are the effects of iron overload?

A
  1. Hepatic dysfunction
  2. Cardiac dysfunction:
    Cardiac failure causes death in >50%
  3. Endocrine dysfunction:
    Anterior pituitary, causing delayed puberty, low bone mass & subfertility
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4
Q

What are the additional risks with β-thalassaemia in pregnancy?

A
  1. Cardiomyopathy
  2. FGR
  3. New endocrinopathies:
    Diabetes, hypothyroidism, hypoparathyroidism
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5
Q

What preconceptual interventions can help in β-thalassaemia?

A
  1. Aggressive iron chelation
  2. Pancreas: fructosamine <300 for 3m
  3. Thyroid: TFTs & treat
  4. Heart: ECG, echo & T2 MRI >20ms
  5. Liver: Ferriscan or T2, dry weight >7mg/g, screen for cholelithiasis
  6. Bone density: DEXA, vitamin D
  7. Red cell antibodies: ABO & full blood group genotype & antibody titres
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6
Q

How can β-thalassaemia cause diabetes?

A
  1. Insulin resistance
  2. Iron-induced islet cell insufficiency
  3. Genetic factors
  4. Autoimmunity
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7
Q

How does β-thalassaemia cause osteoporosis?

A
  1. Thalassaemic bone disease
  2. Chelation of calcium by chelation drugs
  3. Hypogonadism
  4. Vitamin D deficiency
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8
Q

What is the proportion of red cell alloimmunity in β-thalassaemia?

A

16.5%

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9
Q

What medications should be reviewed preconceptually in β-thalassaemia?

A
  1. Discontinue iron chelators deferasirox & deferiprone 3 months before conception
  2. Discontinue bisphosphonates 3 months before conception
  3. Desferrioxamine can be used after 20/40
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10
Q

In what circumstances are IVF & ICSI with PGD offered in β-thalassaemia?

A

If both partners have haemoglobinopathies
To avoid homozygous or compound heterozygous pregnancy

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11
Q

Which partner conditions require genetic counselling when the mother is affected by thalassaemia?

A

Risks of serious haemoglobinopathy:
β-thalassaemia
HbS
HbE
δ-β-thalassaemia
Hb Lepore
HbO Arab
Hb Constant Spring
(Also HbC & other variant Hb, with risk of mild to moderate disorder)

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12
Q

Which immunisations & antibiotics are recommended in β-thalassaemia?

A
  1. Hep B
  2. If splenectomy:
    - pneumococcus every 5 years
    - Hib b with men C
    - daily pen-V, or erythromycin if pen allergic
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13
Q

What supplements should be recommended in β-thalassaemia?

A

Folic acid 5mg 3m preconceptually

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14
Q

How often should women with β-thalassaemia be reviewed in pregnancy?

A
  1. Monthly until 28/40
  2. Fortnightly after this
  3. Monthly fructosamine if diabetes
  4. Cardiac assessment at 28/40
  5. TFTs periodically if hypothyroid
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15
Q

What is the recommended schedule of scanning in β-tfalassaemia in pregnancy?

A
  1. Early scan 7-9/40
  2. Routine dating & anomaly scan
  3. Serial biometrics 4-weekly from 24/40
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16
Q

How should transfusions be managed in β-thalassaemia major in pregnancy?

A
  1. Aim for pretransfusion Hb of 100
  2. Regime usually remains stable
17
Q

How should transfusions be managed in β-thalassaemia intermedia in pregnancy?

A
  1. Regular transfusions if worsening anaemia or evidence of FGR
  2. Targets same as major (100)
  3. Initial 2-3 units with top-ups if needed to reach 120
  4. If Hb <80 at 36/40, for 2 units at 37-38/40
18
Q

What antenatal thromboprophylaxis is recommended in β-thalassaemia?

A
  1. Splenectomy or platelets >600: aspirin
  2. Both: aspirin + LMWH
  3. LMWH for all hospital admissions
19
Q

How should iron chelation therapy be managed antenatally?

A
  1. Managed by haematologist
  2. Cardiologist for myocardial iron loading
  3. If high risk of cardiac decompensation: desferrioxamine 20mg/kg/day for 4-5 days/week from 20-24/40
  4. If liver iron >15mg/g dw, low dose desferrioxamine
20
Q

How should women with β-thalassaemia be managed in labour?

A
  1. MDT involvement
  2. Cross-match if red cell antibodies
  3. IV desferrioxamine 2g over 24h throughout labour
  4. Continuous CTG
  5. Active Mx of 3rd stage
21
Q

What is the postnatal care of women with β-thalassaemia?

A
  1. LMWH for 7d post-VB & 6 weeks post-CS
  2. Encourage breastfeeding

Gaby’s Green Top Guidelines (32 decks)

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