--- title: Thalassemia url: "https://www.yyhmedical.com/en/guide/blood/thalassemia" type: MedicalWebPage inLanguage: en-US --- # Thalassemia > Thalassemia is a group of inherited blood disorders caused by genetic changes that reduce or disrupt the production of hemoglobin. The two main types are alpha thalassemia and beta thalassemia. ## Overview Thalassemia is a group of inherited blood disorders that affect the body's ability to produce normal hemoglobin. Hemoglobin is found in red blood cells and carries oxygen throughout the body. Normal adult hemoglobin is primarily made up of alpha and beta globin chains. Genetic changes that reduce or prevent the production of one of these chains can interfere with normal hemoglobin production, leading to ineffective blood cell production and increased destruction of red blood cells. The two main types are **alpha thalassemia and beta thalassemia**. Severity varies widely, from carriers with no noticeable symptoms to patients with severe disease who require lifelong regular blood transfusions. Thalassemia can also be described as **transfusion-dependent thalassemia (TDT)** or **non-transfusion-dependent thalassemia (NTDT)** based on a person's need for regular transfusions. ## Causes and Inheritance Thalassemia is caused by genetic changes that affect the production of globin chains and can be passed from parents to their children. Alpha thalassemia is usually caused by changes affecting the genes responsible for alpha-globin production, with gene deletions being common. Beta thalassemia is caused by disease-causing variants in the gene responsible for beta-globin production. The type and severity of thalassemia depend on the number and type of affected genes, as well as other genetic factors. As a result, people with thalassemia can have very different symptoms and treatment needs. Because thalassemia is inherited, patients and carriers who are planning a pregnancy may consider genetic counseling and appropriate testing to better understand the chance of passing the condition to their children. ## Signs and Symptoms Symptoms of thalassemia depend on the type and severity of the condition. People with thalassemia trait or milder forms may have no noticeable symptoms or only mild anemia. Moderate or severe forms often become apparent during childhood. Possible symptoms include: - Fatigue and weakness - Pale or yellowish skin and eyes - Dizziness, shortness of breath, or a rapid heartbeat - Slower growth and development in children - An enlarged spleen, which may cause abdominal fullness or discomfort - Bone changes - Dark urine Long-term severe anemia and iron overload can affect the heart, liver, endocrine system, and other organs, making regular monitoring important for patients with moderate or severe disease. ## Diagnosis Diagnosis of thalassemia usually involves a complete blood count, hemoglobin analysis, and genetic testing when needed. Other common causes of microcytic anemia, particularly iron deficiency, should also be considered and ruled out. **Blood Tests** A complete blood count may show small red blood cells, reduced hemoglobin content, and varying degrees of anemia. A peripheral blood smear can provide additional information about red blood cell size and shape. Importantly, **microcytic anemia in a person with thalassemia does not automatically mean iron deficiency**. Iron supplements should generally be used only when iron deficiency has been confirmed. **Hemoglobin Analysis** Hemoglobin electrophoresis or high-performance liquid chromatography can measure different types of hemoglobin and plays an important role in diagnosing beta thalassemia and other hemoglobin disorders. **Genetic Testing** Genetic testing can identify changes in alpha- or beta-globin genes, clarify the type of thalassemia, and support carrier screening, genetic counseling, and prenatal diagnosis. ## Treatment Treatment for thalassemia depends on the type of disease, severity of anemia, transfusion needs, iron burden, organ function, age, and overall health. People with thalassemia trait or mild disease usually do not need specific treatment. Iron supplements should not be taken routinely unless iron deficiency has been confirmed. For patients with moderate or severe disease, treatment focuses on managing anemia, controlling iron overload, and preventing long-term complications. For selected patients, allogeneic hematopoietic stem cell transplantation or gene therapy may offer the possibility of becoming independent of regular transfusions. **Blood Transfusions** Patients with transfusion-dependent thalassemia usually need regular red blood cell transfusions to maintain adequate hemoglobin levels and reduce complications of severe anemia. Patients with non-transfusion-dependent thalassemia may need transfusions only in certain situations, such as severe anemia, infection, surgery, or pregnancy. **Iron Chelation Therapy** Regular transfusions can cause excess iron to build up in the body. Thalassemia itself can also increase iron absorption in some patients. Iron overload can damage the liver, heart, endocrine organs, and other tissues. Iron chelation therapy may be used to remove excess iron, with treatment guided by measures such as serum ferritin, liver iron concentration, and cardiac MRI. **Treatment for Anemia** Some patients with beta thalassemia may benefit from medications that improve red blood cell production and reduce transfusion needs. The choice of treatment depends on the type of thalassemia, age, transfusion requirements, and locally approved indications. **Allogeneic Hematopoietic Stem Cell Transplantation** Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important treatment with curative potential for thalassemia. Transplant evaluation may be considered early for eligible patients, particularly younger patients who have not yet developed significant iron overload or organ damage and have a suitable donor. **Gene Therapy and Gene Editing** Gene therapy has created new treatment options for selected patients with transfusion-dependent beta thalassemia. These approaches use a patient's own blood-forming stem cells, which are genetically modified or edited outside the body and then returned to the patient after conditioning treatment. Gene-editing therapies are now approved for eligible patients with transfusion-dependent beta thalassemia in some countries. Eligibility and availability vary by region, so treatment requires evaluation at a specialized center. ## Content attribution (YMYL) - Author: - Medically reviewed by: - Last reviewed: - First published: > --- Original (HTML):https://www.yyhmedical.com/en/guide/blood/thalassemia This is a clean Markdown mirror for large language models; the original page is authoritative.