Lipaemic serum in Hb E-Beta thalassaemia major: A rare case of hypertriglyceridaemia thalassaemia syndrome

• Published in: Malaysian Journal of Pathology
• Main Author: Kasim N.A.M.; Nor N.S.M.; Wen M.T.; Kamaruddin S.K.A.S.; Kadir S.H.S.A.
• Format: Article
• Language: English
• Published: Malaysian Society of Pathologists 2023
• Online Access: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85170221241&partnerID=40&md5=0b41389a9e200610946d7c86eabc43c7

Introduction: A 1-year-old Malay girl presented with pallor, failure to thrive and hepatosplenomegaly. Her blood was sent for thalassaemia screening and it was incidentally found that her blood appeared lipaemic. Case Report: Primary and secondary causes of hyperlipidaemia were investigated. Her blood was sent for fasting lipid profile, thyroid function test (TFT), fasting plasma glucose (FPG), liver function test (LFT), renal profile (RP) and HIV screening. Lipaemic interference was removed by high-speed centrifugation. She is a product of non-consanguineous marriage. She is staying together with her stepfather who is HIV positive. Her mother’s infective status was negative with no dyslipidaemic features and a normal lipid profile. Lipid profile of her biological father was not known. No other lipid stigmata such as eruptive xanthoma or lipaemia retinalis was seen in the patient. Haemoglobin analysis showed Hb E-Beta thalassaemia major. Her triglycerides was 9.05 mmol/L with normal total cholesterol, 2.85 mmol/L and high-density lipoprotein cholesterol (HDL-c), 0.26 mmol/L. Calculated low-density lipoprotein cholesterol (LDL-c) was invalid as triglycerides was >4.5 mmol/L. TFT, RP, FPG, LFT were normal and HIV status was negative. She was transfused with 10 ml/kg packed cell and her blood post transfusion appeared non lipaemic. Conclusion: Primary hypertriglyceridaemia was excluded based on insignificant family history of dyslipidaemia. Secondary causes of hypertriglyceridaemia were ruled out based on unremarkable laboratory investigations. Thus, we conclude that this patient is having hypertriglyceridaemia thalassaemia syndrome (HTS) which is a rare disorder with unknown pathogenesis. Further research may be required to explore this unknown association. © 2023, Malaysian Society of Pathologists. All rights reserved.