Management of Beta-Thalassaemia in pregnancy GTG Flashcards
What is Thalassaemia major?
Homozygous for B thalassaemia
Severe transfusion dependant anaemia, normall Dx 2-6 years, growth and development may be impaired
What is thalassaemia minor?
Heterozygous for B thalassamia - mild to moderate microcytic anaemia, no detrimental impacts on health
Clinical manifestations of thalassaemias
Anaemia – varying severity
* Skeletal deformities
* Osteoporosis
* Organomegaly
* Hypercoagulable state
* Iron overload
* Transfusion related iron overload complications; including hepatic, cardiac and endocrine dysfunction
What is the mainstay of treatment for thalassaemia
Blood transfusion and iron chelation
What impact can iron overload have
Hepatic, cardiac and endocrine (DM, hypothyroid, hypoparathyroid)
The anterior pituitary gland is sensitive to iron overload, puberty can be delayed/incomplete, low bone mass
Which cause of subfertility is seen in women with thalassaemia?
hypogonadotropic hypogonadism – may require ovulation induction with gonadotrophins.
What is the most common cause of death in people with thalassaemia?
- Cardiac failure is cause of death in 50%.
Screening for haemoglobinopathies in UK
Initial Family origin screening
Red cell index check in low prevalence areas
Haemoglinopathy screen in high prevalence areas
If patient has haemoglinopathy, screening offered to partner
Screen for neonate - heel prick test
What pre-conception care should be offered to women with thalassaemia?
ECHO (low LVEF, CI pregnancy)
ECG
T2 Cardiac MRI (Aim T2 >20mls. If <10mls - increased risk cardiac failure)
Ferriscan or Liver T2 0 ideally iron <7mg/kg, if > 15 increase risk cardiac loading + liver USS
If DM Fructosamine < 300nmol/L and HbA1c < 43 for 3 months
Test partner
Aggressive chelation desferrioxamine
Bone density scan
Review iron chelators
If early pregnancy and EF <55% or Sx of heart failure?
Recommend TOP
Which iron chelators should be stopped? What other mediation should be stopped?
– deferasiroc and deferiprone should be stopped 3 months before conception
- Stop bisphosphaonates 3 months pre-pregnancy
What medications should be started in AN period?
Hep B vaccination
Folic acid 5mg
If splenectomy - pen V
Consider Vit D
When can desferrioxamine be given?
Use 3/12 pre-pregnancy
Stop in 1st trimester
Restart at 20 weeks at low dose if high iron burden
In partner testing which conditions have high risk of serious haemoglinopathy?
Beta Thal
HbS
HbE
Delta Beta thalassaemia
Hb Lepore
HbO Arab
Hb Constant Spring
In partner testing which conditions have high risk of mild- moderate haemoglinopathy?
Hb C
Other variant haemoglobin
