Severe hypertriglyceridemia has been observed in infants with β-thalassemia major, an association termed hypertriglyceridemia-thalassemia syndrome. The pathophysiological basis for this association has remained unclear. We describe 6-month-old American girl with red cell pyruvate kinase (PK) deficiency, failure to thrive, and marked hypertliglyceridemia (=1500 mg/dL). The hyperlipidemia resolved with hypertransfusion therapy. At age 18 months she underwent a splenectomy and has remained transfusion-independent with normal serum triglyceride levels. We suggest that severe hemolysis and chronic wasting are probably responsible for the hypertriglyceridemia seen in infants with thalassemia or PK deficiency.

Original languageEnglish
Pages (from-to)303-305
Number of pages3
JournalIndian pediatrics
Issue number4
StatePublished - Apr 2007


  • Hemolytic anemia
  • Hyperlipidemia
  • Thalassemia


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