A formula to identify potential cases of β-thalassemia/HbE disease among patients with absent HbA, HbE >75% and HbF between 5 and 15%

Abstract

© American Society for Clinical Pathology 2018. All rights reserved. Objective: To establish a simple formula to be used for discrimination between β-thalassemia/hemoglobin E (β-thal/HbE) and homozygous hemoglobin (Hb)E in specimens with absent hemoglobin (Hb)A, HbE of greater than 75%, and HbF between 5% and 15%. Methods: We analyzed laboratory results from February 2015 through February 2018. Molecular analysis for diagnosis of β-thal mutation and HbE was performed in specimens that contained HbE of greater than 75% and HbF from 5% to 15%, as measured by high-performance liquid chromatography (HPLC). HbA2 and HbF levels were also measured by capillary electrophoresis. Then, the formula (6 × HbA2 + HbF)/MCV was developed. Results: The score of 0.9 or higher was found in all 19 β-thal/HbE specimens (100%) and only 8 of 65 homozygous HbE specimens (12.3%). Also, the formula yielded 90.5% efficiency in identifying β-thal/HbE disease, and the efficiency was found to be higher compared with when the HbA2 value of greater than 6% was used by itself (85.4%). Conclusion: The formula (6 × HbA2 + HbF)/MCV, with a cutoff point at 0.9, could identify the potential cases of β-thal/HbE disease among patients with absent HbA, HbE of greater than 75%, and HbF between 5% and 15%.