Symptoms of Thalassemia in Pregnant Women: What You Need to Know
Thalassemia is a genetic blood disorder that affects hemoglobin production and can be classified into three main types: severe (major), intermediate (intermedia), and mild (minor). Each form presents with varying degrees of symptoms, and understanding these differences is crucial—especially during pregnancy when both maternal and fetal health are at stake.
Understanding the Different Types of Thalassemia
Severe Thalassemia (Beta-Thalassemia Major)
Individuals with the severe form typically begin showing symptoms within the first few months of life. These include progressive anemia, enlargement of the liver and spleen, jaundice, and impaired growth. Distinctive facial changes may develop over time due to bone marrow expansion, such as a large head, wide-set eyes, a flattened nasal bridge (saddle nose), prominent forehead, and protruding cheekbones. One hallmark sign is the "crew-cut" or "bossing" appearance of the skull, where the bones of the head become thickened. Additionally, long bones may become fragile and prone to fractures.
Bone and Skeletal Complications
The skeletal abnormalities seen in thalassemia result from excessive bone marrow activity, which causes the marrow cavity to widen while the outer bone layer (cortex) thins. In more advanced cases, pseudotumors—abnormal masses—can form between the ribs and spine due to extramedullary hematopoiesis (blood cell formation outside the bone marrow). Other complications may include gallstones and chronic leg ulcers, particularly in untreated or poorly managed cases.
Intermediate and Mild Forms of Thalassemia
Patients with intermediate thalassemia often experience mild to moderate anemia and can usually survive into adulthood without aggressive treatment. Those with the mild form may have minimal or even no noticeable symptoms and are often diagnosed incidentally during family medical screenings or routine blood tests. Despite the milder presentation, carriers can still pass the defective gene to their children—making genetic awareness especially important for couples planning a family.
Thalassemia During Pregnancy: Risks and Symptoms
Pregnant women with thalassemia typically fall into the mild or intermediate category, as severe cases often require intensive medical management that can complicate conception and gestation. However, even mild forms can become more pronounced during pregnancy due to increased physiological demands on the body. Common symptoms may include chronic fatigue, dizziness, pale skin, and general weakness—all signs of underlying anemia.
Impact on Maternal and Fetal Health
Untreated or poorly managed thalassemia in pregnancy can lead to serious complications. The mother's reduced oxygen-carrying capacity can affect placental function, potentially resulting in fetal anemia, intrauterine growth restriction (IUGR), preterm birth, or even miscarriage. In some cases, the fetus may inherit a more severe form of the disorder, especially if both parents carry the thalassemia gene.
Recommended Screening and Diagnosis
Early detection is key to ensuring a healthy pregnancy. Experts recommend that all expectant mothers, especially those with a family history of anemia or from high-prevalence regions (such as the Mediterranean, Middle East, Southeast Asia, and Africa), undergo comprehensive testing. This includes:
- Complete blood count (CBC) – to assess red blood cell levels and detect anemia
- Hemoglobin electrophoresis – to identify abnormal hemoglobin variants
- Genetic testing for thalassemia mutations – to confirm carrier status or diagnose the condition
When both partners are identified as carriers, prenatal diagnostic options such as chorionic villus sampling (CVS) or amniocentesis can help determine whether the fetus has inherited the condition.
Conclusion: Prioritizing Care for a Healthy Outcome
While thalassemia can pose challenges during pregnancy, proper medical supervision and early screening significantly improve outcomes for both mother and baby. With advances in genetic testing and prenatal care, families at risk can make informed decisions and receive timely interventions. If you suspect you may be a carrier or have symptoms of anemia, consult your healthcare provider early to ensure a safe and healthy pregnancy journey.