Thalassemia Diagnosis

Thalassemia in newborns is typically diagnosed through newborn screening programs, which involve a blood test to measure hemoglobin levels. Further diagnostic tests, such as genetic testing or hemoglobin electrophoresis, may be conducted to confirm the diagnosis.

Yes, genetic testing is an important component of Thalassemia diagnosis. It helps identify specific genetic mutations associated with Thalassemia and provides valuable information about the individual's carrier status or the presence of the disease. Genetic testing aids in confirming the diagnosis, assessing the risk for Thalassemia in family members, and guiding appropriate treatment and management strategies.

Family history is significant in Thalassemia diagnosis as it is an inherited genetic disorder. If a close family member has Thalassemia or carries the gene mutation, there is an increased likelihood of an individual being affected by or carrying the condition. Understanding the family history helps in identifying potential risk and facilitating appropriate testing and counseling.