Beyond genetics: Hypertriglyceridemia in the realm of thalassemia – A case report

Abstract

Beta-thalassemia major, a severe hereditary hemolytic anemia, is typically associated with a normal serum lipid profile. However, rare cases suggest an idiopathic association with hypertriglyceridemia, termed Hypertriglyceridemia–Thalassemia Syndrome. We report a 6-month-old male infant with beta-thalassemia major and severe hypertriglyceridemia (triglyceride level: 1994 mg/dL). Following blood transfusions and dietary modifications, triglyceride levels decreased significantly to 619 mg/dL, suggesting a self-limiting mechanism. This case underscores the importance of screening for hypertriglyceridemia in thalassemia patients to mitigate associated risks, such as atherosclerosis and thromboembolism.