Nice Flashcards
Explain the reduction in fertility associated with thalassaemia ?
How to manage?
🔴In transfusion dependent women where chelation has been suboptimal 👉 iron overload
👉 damage to the anterior pituitary
🔴 they require ovulation induction using injectable gonadotrophins
What is the optimum preconceptual care for women with thalassaemia?
1-Screening for end organ damage
2- optimization of complications prior to pregnancy.
3- review transfusion requirements
4-compliance with chelation therapy
5- assessment of body iron burden
What are the contraceptions that may be used in women with thalassaemia?
Any contraindications ( OC-pop- implants- mirena)
Are there any interventions which are beneficial at preconceptual stage ?
Aggressive chelation: can reduce iron burden and reduce end organ damage.
(⬇️ endocrinopathy / ⬇️ cardiac problems).
Why it is necessary to optimize iron burden prepregnancy?
Because: all chelation therapy should be regarded as potential teratogenic in the first trimester.
What chelation agent has evidence for use in 2nd & 3rd trimester?
Desferrioxamine
* has a short half life
* safe for infusion during ovulation induction
* safe after 20 weeks at low doses
Since diabetes is common in women with thalassaemia.. how to consult a diabetic women with thalassaemia prepregnancy?
Should have serum Fructosamine concentrations < 300 for at least 3 months prior to conception
Equivalent to HbA1c of 43 mmol/mol
Why serum fructosamine is preferred for monitoring diabetic women with thalassaemia?
Because HbA1c may diluted by transfused blood and the results in underestimation
How to preform screening organ damage in women with thalassaemia preconception?
1- pancreas: 👉 diabetes
2- thyroid; thyroid functions
3- heart: echocardiogram & ECG
T2 cardiac MRI
4- liver : -assess liver iron concentration using FerriScan/ liver T2
- ultrasound for liver and gallbladder
5- Bone density scan
6- serum vit D
7- red cells antibodies: ABO and full blood group genotype and antibody titres
How to asses the cardiac status in women with thalassaemia preconception?
🛑All women should be assessed by cardiologist expertise in iron overload.,prior to pregnancy
❤ By : 1- echocardiogram ( cardiomyopathy)
2- ECG ( arrhythmias)
3- T2 cardiac MRI
How to asses liver status in women with thalassaemia preconception?
1- Women should be assessed for liver iron concentration using : FerriScan or liver T2
2 - liver and gallbladder ultrasound
Liver and gallbladder ultrasound in women with thalassaemia is used to detect what?
1- cholelithiasis
2-liver cirrhosis due to iron overload
3- transfusion related viral hepatitis
What is the target of liver iron in women with thalassaemia before pregnancy?
Should be less than 7 mg/ g
If liver iron exceeds 15 mg/g prior to conception.. what is the management in pregnancy?
Iron chelation with low dose of desferrioxamine between 20-28 weeks
( because the risk of increased myocardial iron loading)
What makes osteoporosis a common finding in women with thalassaemia?
- underlying thalassaimic bone disease
- chelation of Ca by chelation drugs
- hypothyroidism
- Vit D deficiency
What is the prevalence of allo immunity in individuals with thalassaemia?
16% 👉 indicate a risk of hemolytic disease of the fetus & newborn
👉 may be challenges in obtaining suitable blood for transfusion.
What medications should be reviewed preconcepually in women with thalassaemia?
*Iron chelators: - deferasirox oral
- deferiprone oral
( women should be converted to
Desferrioxamine subcutaneous)
* bisphosphonate
🛑 should ideally be discontinued
3 months prior to conception
What is the role of genetic screening in women with thalassaemia?
PGD should be considered in the presence of haemoglobinopathies in both partners so that :
A homozygous /
Compound heterozygous
Can be avoided
What are the conditions in the partner that require counseling if the mother is affected by thalassaemia?
risk of serious haemoglobinopathy :
- B thalassaemia
- HbS
- HbE
- delta bata thalassaemia
- Hb lepore
- HbO arab
- Hb constant spring
Risk of mild to moderate haemoglobinopathy:
- HbC
- other variant haemoglobin
What is the importance of immunization in women who are transfused ?
- Hepatitis B vaccination
- determine Hepatitis C status ( common & asymptomatic)
- If positive 👉 RNA titres should
be determined
- If positive 👉 RNA titres should
What is the importance of immunization/ Antibiotics prophylaxis in women who have had splenectomy?
- daily penicillin prophylaxis: high risk of infection from encapsulated bacteria As: - Neisseria meningitis
-Streptococcus Pneumonia
- Haemophilus influenza type b - vaccination for :
- Haemophilus influenza type b
- conjugated meningococcal C
Single dose
-pneumococcal vaccine: every 5 y
What vitamin supplements should be recommended preconceptually to women with thalassaemia?
Folic acid 5 mg / d ( 3 months)
How is antenatal care provided to women with thalassaemia?
1- visits : monthly until 28 weeks and fortnightly thereafter.
2- thalassaemia major 👉 cardiac assessment at 28 w
3- women with diabetes 👉 monthly -assessment of serum Fructosamine
- review in diabetic pregnancy clinic
4- women with hypothyroidism 👉 monitor thyroid function
What is the recommended schedule of US during pregnancy in women with thalassaemia?
Should be offered:
- early scan 7-9 w ( high risk of early pregnancy loss)
- routine 11-14 w
- routine anomaly scan 18-20 w
-From 24 w : every 4 w
