Alpha Thalassemia in India: Understanding the Condition
Alpha thalassemia is an inherited blood disorder that affects the body‘s ability to produce hemoglobin, the protein in red blood cells that carries oxygen. 1 People with alpha thalassemia may have mild to severe anemia, depending on the severity of the condition. While it is less common in India compared to beta thalassemia, it does exist, particularly in certain communities and regions.
Causes
Alpha thalassemia is caused by a defect in the genes that control the production of alpha-globin, a protein that makes up part of hemoglobin. The severity of alpha thalassemia depends on how many of these genes are affected.
Symptoms
People with mild alpha thalassemia may not have any symptoms. Those with more severe forms of the condition may experience:
- Fatigue
- Weakness
- Pale skin
- Shortness of breath
- Enlarged spleen
- Bone deformities
Diagnosis
Alpha thalassemia is diagnosed with blood tests, including a complete blood count and hemoglobin electrophoresis. Genetic testing may also be done to identify the specific genetic defect.
Testing Options
Several testing options are available for alpha thalassemia, including:
- Complete Blood Count (CBC)
- Hemoglobin Electrophoresis
- Alpha Globin Gene Sequencing
- Deletion Analysis
- Prenatal Testing
Mapmygenome, a leading Indian genetic testing company, offers a comprehensive thalassemia panel that can detect various mutations associated with alpha thalassemia. This panel can help individuals understand their risk of carrying the condition and make informed decisions about family planning.
Treatment
There is no cure for alpha thalassemia, but there are treatments that can help manage the symptoms. These include:
- Blood transfusions: to replace red blood cells
- Iron chelation therapy: to remove excess iron from the body
- Folic acid supplements: to help the body produce red blood cells
- Bone marrow transplant: in severe cases
Living with alpha thalassemia
People with alpha thalassemia can live full and productive lives with proper management. It is important to see a doctor regularly to monitor the condition and receive treatment as needed.
Prevention
Alpha thalassemia is an inherited condition, so there is no way to prevent it. However, genetic counseling can help couples understand their risk of having a child with alpha thalassemia.
Additional resources
- National Heart, Lung, and Blood Institute
- Centers for Disease Control and Prevention
- The Thalassemia Foundation
