Thalassemia in pregnancy

• Most patients with thalassemia may suffer from infertility and require assisted reproductive technology to achieve pregnancy.

• Spontaneous fertility may occur in patients who have successfully undergone iron chelation therapy and blood transfusion.

• Pregnancies in patients with thalassemia should be planned, as they are considered high-risk for both the mother and fetus.

  • Preconception genetic counseling, close antenatal monitoring and screening, and intrapartum and postpartum management are highly recommended.

  • A multidisciplinary team, including a hematologist, cardiologist, endocrinologist, and gynecologist, should be involved in the management of pregnant patients with thalassemia.

• Hemoglobinopathy screening should be offered to women with unknown hemoglobinopathy status and normocytic or microcytic anemia.

• Partner screening for thalassemia carrier status

  • Not a carrier for thalassemia: Follow protocols for spontaneous conception, ovulation induction (e.g., gonadotropins, clomiphene citrate), or in vitro fertilization.

  • Carrier of alpha thalassemia: Offer preimplantation genetic testing and in vitro fertilization.

  • Partner has thalassemia trait: Advise patients to use donor gametes or a sperm donor.

• If both partners have thalassemia or thalassemia trait: Offer genetic counseling prior to conception. After successful conception, the fetus will undergo thalassemia screening using chorionic villus sampling or amniocentesis.

• If both partners have thalassemia major: Consider alternatives including adoption.

The most important factors to consider during a fertility assessment are cardiac and liver function, and risk of vertical transmission of viral diseases.

• Evaluation

  • Cardiac function tests each trimester

  • Gestational diabetes screening at 16 weeks' gestation

  • Fetal growth monitoring: serial fetal biometric ultrasounds starting from 24 weeks' gestation

  • Assessment of splenomegaly

• Iron chelation treatment: should be adjusted and closely monitored during pregnancy

  • Deferoxamine: used in the second and third trimesters

  • Deferasirox and deferiprone: must be discontinued 3 months prior to conception

• Transfusions: should aim to maintain hemoglobin > 10 g/dL to prevent intrauterine fetal growth restriction

• Although vaginal delivery is possible, patients usually require cesarean delivery, as those with thalassemia have an increased incidence of cephalopelvic disproportion.

• Breastfeeding should not be discouraged.

• Resume iron chelation therapy, if eligible.

  • Deferoxamine can be resumed immediately postpartum.

  • The use of deferasirox and deferiprone should be delayed until the patient has stopped breastfeeding.

• Continue calcium and vitamin D supplementation.

• Thromboprophylaxis with LMW heparin

• Discuss contraception options (i.e., progesterone-only pill or barrier methods).

• Maternal

  • Cardiac failure

  • Alloimmunization

  • Thrombosis

  • Diabetes mellitus

  • Hypothyroidism

  • Hyperparathyroidism

• Fetal

  • Growth restriction

  • Prematurity

  • Transmission of hepatitis B, hepatitis C, and/or HIV