Thalassaemia in Pregnancy, Management of Beta

Question 1

What is the optimum preconceptual care for women with thalassaemia?

Answer 1

• At each visit with thalassaemia team, there should be discussion & documentation of intentions regarding pregnancy. This should include screening for end-organ damage & optimisation of complications prior to embarking on any pregnancy.
• Each Specialist Haemoglobinopathy Centre should have guideline for management of pregnant women with thalassaemia.
• Women should be advised to use contraception despite reduced fertility associated with thalassaemia.

Question 2

Are there any interventions which are beneficial at the preconceptual stage?

Answer 2

Aggressive chelation

• reduce and optimise body iron burden and
• reduce end-organ damage.

Question 3

Are there any interventions which are beneficial at the preconceptual stage?
Pancreas

Answer 3

• Diabetes is common in thalassaemia.
• diabetes referred to diabetologist.
• Good glycaemic control is essential prepregnancy.
• established diabetes mellitus should ideally serum fructosamine concentrations < 300 nmol/l for at least 3 months prior to conception. This is equivalent to an HbA1c of 43 mmol/mol.

Question 4

Are there any interventions which are beneficial at the preconceptual stage?
Thyroid

Answer 4

• Thyroid function should be determined.

- should be euthyroid prepregnancy.

Question 5

Are there any interventions which are beneficial at the preconceptual stage?
Heart

Answer 5

• All assessed by cardiologist ( expert in thalassaemia and/or iron overload) prior to pregnancy.
• echocardiogram
• electrocardiogram (ECG)
• T2* cardiac MRI.

Question 6

Are there any interventions which are beneficial at the preconceptual stage?
Liver

Answer 6

• liver iron concentration using FerriScan® or liver T2*.
• Ideally liver iron should be < 7 mg/g (dry weight) (dw).

Liver and gall bladder (spleen if present) US to detect

• cholelithiasis and
• liver cirrhosis due to iron overload or
• transfusion-related viral hepatitis.

Question 7

Are there any interventions which are beneficial at the preconceptual stage?
Bone density scan

Answer 7

• bone density scan to document pre-existing osteoporosis.

- Serum vitamin D concentrations optimised with supplements if necessary.

Question 8

Are there any interventions which are beneficial at the preconceptual stage?
Red cell antibodies

Answer 8

• ABO and
• full blood group genotype and
• antibody titres should be measured.

Question 9

What medications should be reviewed preconceptually?

Answer 9

• Iron chelators should be reviewed and

- deferasirox (de FER a sir ox) and deferiprone (de FER i prone) ideally discontinued 3 months before conception.

Question 10

What is the importance of genetic screening and what procedure(s) are involved for women with
thalassaemia?

Answer 10

• If the partner is a carrier of a haemoglobinopathy that may adversely interact with the woman’s genotype then genetic counselling should be offered.
• Consider IVF/ICSI with PGD if haemoglobinopathies in both partners so that homozygous or compound heterozygous pregnancy can be avoided.
• Egg and sperm donors considering IVF should be screened for haemoglobinopathies.

Question 11

what are Carrier or sufferer condition in partner requiring counselling & mother is affected by thalassaemia?

Affected offspring:Risk of serious haemoglobinopathy applies to all

Answer 11

1  - Beta thalassaemia 
2 - HbS
3 - HbE
4 - Delta beta thalassaemia
5 - Hb Lepore
6 - HbO Arab
7 - Hb Constant Spring

Question 12

what are Carrier or sufferer condition in partner requiring counselling & mother is affected by thalassaemia?

Affected offspring:Risk of a mild to moderate disorder

Answer 12

1 - HbC

2 - Other variant haemoglobin

Question 13

What is the importance of immunisation and antibiotic prophylaxis in women who are at risk of
transfusion-related viral infections or have had a previous splenectomy?

Answer 13

• Hepatitis B vaccination is recommended in HBsAg negative women who are transfused or may be
  transfused.
• Hepatitis C status should be determined.
• All women who have undergone a splenectomy should take penicillin prophylaxis or equivalent.
• All women who have undergone a splenectomy should be vaccinated for pneumococcus and
  Haemophilus influenzae type b if this has not been done before.

Question 14

What vitamin supplements should be recommended?

Answer 14

Folic acid (5 mg) is recommended preconceptually to all women to prevent neural tube defects.

Question 15

How is specialist input delivered for women with thalassaemia?

Answer 15

• reviewed monthly until 28 weeks of gestation and fortnightly thereafter.
• MDT: routine + specialist antenatal care.
• thalassaemia + diabetes = monthly fructosamine
  in specialist diabetic pregnancy clinic.
• All with major specialist cardiac assessment at 28 wks and thereafter as appropriate.
• Thyroid function monitored in hypothyroid patients

Question 16

What is the recommended schedule of ultrasound scanning during pregnancy?

Answer 16

• offer an early scan at 7–9 weeks of gestation.
• routine first trimester scan (11–14 weeks of gestation)
• detailed anomaly scan at 18–20+6 weeks of gestation,
• Serial fetal biometry scans every 4 weeks from 24
  weeks of gestation.

Question 17

How should the transfusion regimen be managed during pregnancy in women with thalassaemia major?

Answer 17

• thalassaemia major: blood transfusions on a regular basis aiming for pretransfusion haemoglobin of 100 g/l.

Question 18

How should the transfusion regimen be managed during pregnancy in women with thalassaemia
intermedia?

Answer 18

• If worsening maternal anaemia or FGR, regular transfusions should be considered.
• If a woman with thalassaemia intermedia starts transfusion, haemoglobin targets are managed as for
  thalassaemia major.
• thalassaemia intermedia who are asymptomatic with normal fetal growth and low haemoglobin should have a formal plan outlined in notes with regard to blood transfusion in late pregnancy.

Question 19

What antenatal thromboprophylaxis is recommended?

Answer 19

undergone splenectomy or have platelet count greater than 600 x 109 /l

• commence or continue low-dose aspirin (75 mg/day).
• offer LMWH thromboprophylaxis as well as low-dose aspirin (75 mg/day).
• thalassaemia who are not already using prophylactic LMWH should be advised to use it during antenatal hospital admissions.

Question 20

What is the optimum antenatal management of iron chelation therapy?

Answer 20

• Iron chelation therapy is complex and

- tailored to needs of the individual woman.

Question 21

Management of women with myocardial iron

Answer 21

• myocardial iron loading: regular cardiology review with careful monitoring of ejection fraction during pregnancy as signs of cardiac decompensation are the primary indications for intervention with chelation therapy.
• Those at highest risk of cardiac decompensation should commence low-dose subcutaneous
  desferrioxamine (20 mg/kg/day) on a minimum of 4–5 days a week under joint haematology and cardiology guidance from 20–24 weeks of gestation.

Question 22

Management of women with liver iron

Answer 22

• severe hepatic iron loading be carefully reviewed and

- consider low dose desferrioxamine from 20 weeks.

Question 23

What is the best intrapartum management for women with thalassaemia major or intermedia?

Answer 23

• Timing of delivery in line with national guidance.
• Inform Senior midwifery, obstetric, anaesthetic and haematology staff sooner on admissionin delivery.
• red cell antibodies, blood should be cross-matched for delivery since this may delay availability of blood. Otherwise a group and save will suffice.
• In women with thalassaemia major IV desferrioxamine 2 g over 24 hours should be administered for duration of labour.
• Continuous intrapartum electronic fetal monitoring
• not an indication for caesarean section.
• Active MX of third stage of labour to minimise blood loss.

Question 24

What should be the optimum care post delivery?

Answer 24

• high risk for venous thromboembolism.

- Breastfeeding is safe & encouraged.