Clinico-Laboratory Profile of Hypertriglyceridemia Thalassemia Syndrome: A Case Series in a Paediatric Tertiary Care...

Increased hemolysis and repeated blood transfusion trigger oxidative stress resulting in numerous adverse effects in beta-thalassemia patients. Extreme elevation of triglyceride level is a rare clinical entity seen in these patients. It is presumed to be caused due to an increase in oxidative stress and is termed Hypertriglyceridemia Thalassemia Syndrome.

To assess the clinical and laboratory characteristics of beta-thalassemia patients presenting with hypertriglyceridemia and its correlation with the pre-transfusion hemoglobin level.  Methods: This hospital record-based retrospective study was conducted at the Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, India. The study comprised 12 pediatric beta-thalassemia patients whose plasma appeared milky or chylous during a complete hemogram. Clinical examination and laboratory investigations were done to describe their clinico-laboratory features. A whole exome sequencing was carried out to assess their genetic background. Blood hemoglobin and serum triglyceride estimation was carried out initially and at follow-up to determine any correlation between the two.  Results: Out of 1482 patients, 12 (0.80 %) were diagnosed with Hypertriglyceridemia Thalassemia Syndrome. The median age of presentation was 12.5 months (Q1:10 months, Q3:14 months)., and the pretransfusion hemoglobin was 4.82 ± 1.16 g/dL. The lipid profile showed a triglyceride level of 858.3 ± 198.4 mg/dl and a total cholesterol level of 117.4 ± 16.15 mg/dl. Analysis revealed that the triglyceride levels were negatively correlated with the pretransfusion hemoglobin level (repeated measures correlation (rmcorr) = -0.65, 95% CI [-0.794, -0.425], p < 0.001). A genetic study highlighted c.92+5G>C as the commonest mutation.

Hypertriglyceridemia was a rare presentation in transfusion-dependent beta-thalassemia patients. The serum triglyceride level significantly reduced when blood transfusion at regular intervals restored the patient's hemoglobin level.