Thalassemia genetic profile testing is performed to identify specific mutations in the genes responsible for thalassemia, a group of inherited blood disorders that affect the production of hemoglobin.
When this test is required
The test is usually requested when a person has symptoms of anemia, has a family history of thalassemia, or belongs to high-risk ethnic groups.
What the Test Detects
The test identifies specific mutations in the genes responsible for thalassemia, including HBB, HBA1, HBA2, and HBD.
Preparation for the Test
There is no specific test preparation needed. However, it is recommended to inform the healthcare provider about any medications or supplements being taken before the test.
Sample Requirements
The test requires a blood sample, usually obtained through a simple blood draw.
Additional Notes
Thalassemia is a genetic condition and cannot be cured. However, proper management and treatment can help alleviate symptoms and prevent complications. It is recommended to discuss the test results with a healthcare provider or genetic counselor for further guidance.
