LABORATORY EVALUATION OF BETA THALASSEMIA

Course overview

BETA THALASSEMIA IS A HEREDITARY HEMATOLOGICAL DISORDER WITH DEFECTS IN BETA GLOBIN CHAIN SYNTHESIS. BASED ON THE UNDERLYING MOLECULAR DEFECT, THEY CAN HAVE VARIABLE PHENOTYPES RANGING FROM ASYMPTOMATIC CARRIERS TO SEVERE TRANSFUSION-DEPENDENT ANEMIA. THE LABORATORY EVALUATION IS BASED ON VARIOUS HEMATOLOGICAL TESTS LIKE COMPLETE BLOOD COUNT, IRON STUDIES, PERIPHERAL SMEAR, HEMOGLOBIN ANALYSIS, AND MOLECULAR TESTING. THE MOST RELIABLE METHOD FOR DIAGNOSIS IS HEMOGLOBIN ANALYSIS, FOR WHICH VARIOUS TECHNIQUES LIKE HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY (HPLC), ELECTROPHORESIS, AND CHROMATOGRAPHY ARE AVAILABLE. MOLECULAR DIAGNOSES ARE NEEDED IN CASES OF SEVERE TRANSFUSION-DEPENDENT AND MILD-MODERATE NON-TRANSFUSION-DEPENDENT CASES. DNA EVALUATION BY CHORIONIC VILLI SAMPLING OR CULTURE OF THE FETAL CELL IS USED FOR A PRENATAL DIAGNOSIS. AS IT IS A RECESSIVE DISEASE, RECOGNIZING CARRIERS CAN HELP PREVENT SEVERE DISEASE.