Significance of leukocyte β-glucocerebrosidase and plasma chitotriosidase in patients with β-thalassemia major

Abstract

Objective β-thalassemia major (β-TM) is an autosomal-recessive condition with various clinical presentations, including anemia, splenomegaly, and skeletal and cardiac involvement. The aim of this study was to analyze leukocyte β-glucocerebrosidase (β-GBA) levels and plasma chitotriosidase (PCT) activity in patients with β-TM and to determine the significance of these two enzymes in this disease. Patients and methods This study included 40 patients, 18–55 years of age, who were under follow-up for β-TM in our clinic. Physical examination, ECG, echocardiography, laboratory findings, and the results of imaging tests obtained during routine control visits were recorded. Leukocyte β-GBA and PCT activity levels were analyzed in the blood using fluorometric methods. Results The average age of the 40 patients, which included 24 (60%) women and 16 (40%) men, was 28.5±7.8 years. Leukocyte β-GBA levels were below 2.5 nmol/mg/h in 15 patients, and PCT activity was above 200 μmol/l/h in 10 patients. A positive correlation was detected for leukocyte β-GBA enzyme levels with cardiac T2FNx01 (P=0.024); however, a negative correlation was detected with intraventricular septum thickness (P=0.029) and left heart posterior wall thickness (P=0.030). Conclusion Lower leukocyte β-GBA levels and higher PCT activity may be present in patients with β-TM. There may be an increase in cardiac iron load, intraventricular septum thickness, and left ventricle posterior wall thickness, especially in patients with lower leukocyte β-GBA levels and higher PCT activity. Therefore, leukocyte β-GBA levels and PCT activity may be associated with cardiac complications in patients with β-TM.