Learn Thalassemia

Key Facts About Thalassemia:

• Genetic Disorder: Thalassemia is an inherited blood disorder caused by mutations in the genes responsible for hemoglobin production.
• Types of Thalassemia:

• Alpha Thalassemia: Involves the alpha globin genes.
• Beta Thalassemia: Involves the beta globin genes, with subtypes including Thalassemia Major (Cooley’s Anemia) and Thalassemia Minor.

• Symptoms: Symptoms can vary from mild to severe and may include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, and abdominal swelling.
• Diagnosis: Commonly diagnosed through blood tests such as a complete blood count (CBC) and hemoglobin electrophoresis.
• Treatment Options:

• Regular blood transfusions for severe cases.
• Iron chelation therapy to remove excess iron.
• Bone marrow or stem cell transplant in some cases.
• Gene therapy is being researched as a potential future treatment.

• Complications: Potential complications include iron overload, bone deformities, cardiovascular issues, and increased risk of infections.
• Living with Thalassemia: Patients often require ongoing medical care and monitoring, including regular check-ups and supportive therapies.
• Prevention and Screening: Genetic counseling and prenatal screening can help at-risk couples understand their chances of having a child with thalassemia.
• Global Impact: More common in people of Mediterranean, Middle Eastern, South Asian, and African descent, with varying prevalence worldwide.
• Support and Resources: Numerous organizations provide resources, support groups, and information for patients and families living with thalassemia.