What are the management recommendations for a pregnant patient with thalassemia (a genetic disorder affecting hemoglobin production)?

Management of Thalassemia in Pregnancy

Pregnant women with thalassemia major should be managed at expert centers with multidisciplinary teams, requiring preconception cardiac assessment with T2 MRI, maintenance of hemoglobin ≈10 g/dL through intensified transfusions, thromboprophylaxis (especially if splenectomized), and consideration of deferoxamine chelation restart in late second trimester if severe iron overload exists.* 1

Preconception Assessment and Counseling

Cardiac evaluation is mandatory before conception:

• Assess cardiac T2* and left ventricular function/dimensions using cardiac MRI to identify iron-related cardiac damage 1
• Annual electrocardiography and echocardiography should already be performed to detect pre-clinical cardiac disease 2
• Women with severe cardiac or hepatic iron overload, or those with preexisting cardiac disease, face substantially higher maternal risk and require specialized planning 1

Fertility considerations:

• Well-transfused and chelated women with thalassemia major can achieve spontaneous fertility 1
• Most women have impaired fertility from hypogonadism and require ovulation induction, which increases risk of multiple gestations 1
• Approximately one-third of patients need assisted reproductive techniques 3

Partner screening is essential:

• Screen partner for thalassemia carrier status with CBC and hemoglobin analysis to assess risk of severe fetal disease 4
• Offer prenatal diagnosis options including chorionic villus sampling (10-13 weeks) or amniocentesis (15-20 weeks) 4

Transfusion Management During Pregnancy

Maintain hemoglobin at approximately 10 g/dL throughout pregnancy:

• Blood consumption increases during pregnancy to ensure optimal fetal growth 1
• Monitor complete blood count every 3-6 months, or more frequently if clinically indicated 4
• Increased transfusion requirements of 30-40% are common and should be anticipated 3

Iron Chelation Strategy

Stop teratogenic chelators at conception:

• Discontinue deferiprone and deferasirox due to teratogenic concerns 1
• The interruption of chelation combined with increased transfusions significantly worsens iron overload during pregnancy 1

Consider restarting deferoxamine in select cases:

• In patients with severe cardiac or hepatic iron overload, restart deferoxamine toward the end of the second trimester 1
• This decision should balance maternal cardiac risk against potential fetal effects 1

Cardiac Monitoring Throughout Pregnancy

Close cardiac surveillance is critical:

• Monitor cardiac function carefully throughout pregnancy as increased blood volume and blood pressure changes may compromise heart function 1
• Cardiac complications occur in 1.1% to 15.6% of pregnancies in women with thalassemia 1
• Patients with cardiac T2* <6 ms have approximately 14% risk of arrhythmia within one year, predominantly atrial fibrillation 1

Thromboembolism Prophylaxis

Anticoagulation is mandatory in high-risk patients:

• Prophylaxis with heparin or low-molecular-weight heparin is indicated, particularly in splenectomized patients and those with thalassemia intermedia 1
• Splenectomized patients have significantly elevated thrombotic risk requiring careful monitoring 1, 2

Obstetric Complications to Anticipate

Multiple maternal and fetal risks exist:

• Spontaneous miscarriage and fetal loss occur in 9% to 33.3% of pregnancies 1, 4
• Gestational diabetes, preeclampsia, and hypertension are reported frequently 1, 4
• Preterm births occur at increased rates due to maternal or obstetric complications 1, 4

Fetal surveillance requirements:

• Ultrasound surveillance in late second and early third trimester is critical to detect hydrops fetalis if severe alpha thalassemia is inherited 4
• Monthly fetal growth monitoring from viability ensures adequate development 4

Delivery Planning

Cesarean delivery rates are substantially elevated:

• Cesarean rates range from 24% to 100% due to fetopelvic disproportion, osteoporosis, maternal HIV infection, or patient preference 1, 4
• Plan delivery at centers with expertise in high-risk obstetrics and thalassemia management 1, 4

Postpartum Management

Resume iron chelation immediately after delivery:

• Restart appropriate chelation therapy postpartum to address accumulated iron burden 5
• Counsel on breastfeeding compatibility with chelation agents 5
• Provide contraception counseling to allow optimal inter-pregnancy interval for iron reduction 5

Management of Thalassemia Minor (Trait) in Pregnancy

Avoid therapeutic iron supplementation:

• Start only low-dose prophylactic iron (30 mg/day) at first prenatal visit, not therapeutic doses 6
• The most common error is treating thalassemia minor with therapeutic iron doses (60-120 mg/day), which provides no benefit and may cause iron overload 6
• If anemia fails to respond after 4 weeks despite compliance, confirm diagnosis with MCV, RDW, and serum ferritin 6

Referral criteria:

• Only refer if hemoglobin falls below 9.0 g/dL or hematocrit below 27.0% 6
• Women with confirmed thalassemia minor and hemoglobin >9 g/dL do not require referral solely for mild anemia 6

Critical Pitfalls to Avoid

The following errors compromise maternal and fetal outcomes:

• Failing to perform preconception cardiac assessment with T2* MRI in thalassemia major patients 1
• Inadequate transfusion support allowing hemoglobin to fall below 10 g/dL 1
• Omitting thromboprophylaxis in splenectomized patients 1, 2
• Treating thalassemia minor with therapeutic iron doses instead of low-dose prophylaxis 6
• Managing high-risk thalassemia pregnancies outside expert centers with multidisciplinary teams 1, 4
• Failing to screen partner for carrier status, missing at-risk pregnancies 4