Comprehensive Alpha and Beta Thalassemia Gene Panel

Thalassemia is an inherited blood disorder that affects the body’s ability to produce normal hemoglobin, the protein in red blood cells that carries oxygen. When hemoglobin production is reduced or abnormal, it can cause anemia and related symptoms like fatigue, weakness, pale skin, and shortness of breath.

The Comprehensive Alpha and Beta Thalassemia Gene Panel uses advanced Next-Generation Sequencing (NGS) technology to analyze the genes HBA1, HBA2, and HBB, which are responsible for producing the alpha and beta globin chains of hemoglobin.

This panel detects a wide range of genetic abnormalities, including point mutations, deletions, and insertions, that can cause alpha or beta thalassemia. Sequencing both sets of globin genes provides a complete genetic profile that helps confirm the diagnosis, identify carriers, and assess the risk of passing the condition to future generations.

Doctors may recommend this panel when there are symptoms such as moderate to severe anemia, persistent fatigue, pale or cold skin, shortness of breath, or irregular heartbeat. It is also advised for individuals with a family history of thalassemia or other hemoglobin disorders, known carriers of thalassemia traits, or children of carrier parents. This test helps diagnose thalassemia caused by abnormal hemoglobin production, detect underlying genetic mutations, and screen close relatives of affected patients to enable early diagnosis, appropriate management, and genetic counseling.

For this test, it is important to submit the clinical history, histopathology report, previous test results, and a doctor’s prescription at the time of sample collection. The Tata 1mg consolidated Test Requisition Form (TRF) must also be duly filled and submitted.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for a proper understanding of the test results.

Note: Genetic counseling can be provided. If interested, please send the request to this email id: [email protected]