Evidence map›Paper›PMID 39328659›Full record

ArticleCureus2024

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

Aritra Kapat, Raghunath Murmu, Satyajit Mandal, Koushik Biswas, Subhajit Bhakta, Asok Kumar Mandal

Abstract read
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Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Aritra KapatPaediatric Medicine, Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, IND.
Raghunath MurmuPaediatric Medicine, Midnapore Medical College and Hospital, Midnapore, IND.
Satyajit MandalPaediatric Medicine, Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, IND.
Koushik BiswasBiochemistry, All India Institute of Medical Sciences, Rae Bareli, Rae Bareli, IND.
Subhajit BhaktaPaediatric Medicine, Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, IND.
Asok Kumar MandalPaediatric Medicine, Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIncreased 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.

objectivesTo 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.

conclusionHypertriglyceridemia 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.

Indexed as

anemiaexome sequencinghypertriglyceridemia (htg)hypertriglyceridemia thalassemia syndromelipid profilesoxidative stresspaediatricprimary iron overloadthalassemiatriglyceride

Identifiers

PMID39328659
PMCPMC11426336

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