Blood that was far from red: hypertriglyceridaema thalassaemia syndrome: case report

Thalassaemia is the most common inherited haemoglobin disorder worldwide and a major health problem. Beta-thalassaemia major generally presents with a normal serum lipid profile, but there have been a few reports of its association with hypertriglyceridaemia, the exact pathogenesis of which remains unknown, and where early and regular blood transfusions ameliorate hypertriglyceridemia, thereby preventing its complications and the need for medical treatment of hypertriglyceridemia. This entity was seen in a 6-month-old infant girl who presented with severe anaemia, failure to thrive and organomegaly, and was incidentally found to have hypertriglyceridaemia. Hypertriglyceridaemia thalassaemia syndrome has rarely been described.

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Publication Details

Journal
Paediatrics and International Child Health
Published
2025-10-02
DOI
https://doi.org/10.1080/20469047.2025.2583690
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
Field-Weighted Citation Impact
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article

Blood that was far from red: hypertriglyceridaema thalassaemia syndrome: case report

Ranjini Srinivasan, Anand Prakash, P Shanthi Priya, Irene M. Mathews
Paediatrics and International Child Health
Hemoglobinopathies and Related Disorders
article

Blood that was far from red: hypertriglyceridaema thalassaemia syndrome: case report

Ranjini Srinivasan, Anand Prakash, P Shanthi Priya, Irene M. Mathews
article en

Abstract

Thalassaemia is the most common inherited haemoglobin disorder worldwide and a major health problem. Beta-thalassaemia major generally presents with a normal serum lipid profile, but there have been a few reports of its association with hypertriglyceridaemia, the exact pathogenesis of which remains unknown, and where early and regular blood transfusions ameliorate hypertriglyceridemia, thereby preventing its complications and the need for medical treatment of hypertriglyceridemia. This entity was seen in a 6-month-old infant girl who presented with severe anaemia, failure to thrive and organomegaly, and was incidentally found to have hypertriglyceridaemia. Hypertriglyceridaemia thalassaemia syndrome has rarely been described.

Paediatrics and International Child HealthVol. 45(3-4)
St.John's Medical College Hospital (IN)
Openalex Percentile: Top 48%
Hemoglobinopathies and Related Disorders
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