What is Thalassemia?
Thalassemia is a genetic blood disorder that affects the body’s ability to produce hemoglobin — the protein in red blood cells that carries oxygen. It is caused by mutations in the HBB gene (for beta-thalassemia) or genes controlling the production of alpha-globin (for alpha-thalassemia). The severity of thalassemia can range from mild anemia to life-threatening forms that require regular blood transfusions.
Key Features
- Inherited in an autosomal recessive pattern — a child must receive the defective gene from both parents to develop the disease
- Classified into alpha-thalassemia and beta-thalassemia, depending on which part of hemoglobin is affected
- Can cause chronic anemia and related complications
Common Symptoms
- Fatigue and weakness
- Pale or yellowish skin
- Facial bone deformities (in severe cases)
- Slow growth and delayed puberty
- Enlarged spleen or liver
- Dark urine
- Severe cases may require lifelong transfusions and iron chelation therapy
How to Reduce the Risk
- Carrier screening before pregnancy to identify if both partners carry thalassemia mutations
- Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos free from thalassemia mutations
- Prenatal genetic testing (e.g., chorionic villus sampling or amniocentesis) for early detection
- Genetic counseling to explore reproductive options, including the use of donor eggs or sperm if both partners are carriers