How are thalassemias most commonly diagnosed?

Thalassemias are most commonly diagnosed through hemoglobin electrophoresis, which is a technique that separates and identifies different types of hemoglobin in the blood. This method is essential because thalassemias involve defects in hemoglobin production. By using hemoglobin electrophoresis, healthcare providers can identify abnormal hemoglobin variants that are associated with these disorders, allowing for a definitive diagnosis.

Other methods, while useful in certain contexts, do not provide the specificity needed for diagnosing thalassemias. For instance, a complete blood count can show signs of anemia or abnormal red blood cells but cannot confirm the specific type of disorder, as it lacks the detailed analysis of hemoglobin types. Similarly, a bone marrow biopsy might be ordered in complex cases or to rule out other conditions, but it is not the standard diagnostic tool for thalassemias. Genetic testing can identify mutations associated with thalassemias and may be used in certain situations, particularly for carrier detection or prenatal diagnosis, but is not as commonly used as hemoglobin electrophoresis for initial diagnosis. Thus, hemoglobin electrophoresis stands out as the primary diagnostic method for thalassemias due to its ability to specifically analyze hemoglobin composition.