ArticleMetabolomics : Official journal of the Metabolomic Society2021
Amniotic fluid metabolomic and lipidomic alterations associated with hemoglobin Bart's diseases.
Article in Metabolomics : Official journal of the Metabolomic Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
- Prevalence of low bone mineral density and associated plasma metabolite alterations in thalassemia.Scientific reports · 2026Article
- Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature.Prenatal diagnosis · 2025Review
- Cyclophosphamide Induces Lipid and Metabolite Perturbation in Amniotic Fluid during Rat Embryonic Development.Metabolites · 2022Article
- UPLC/Q-TOF MS-Based Urine Metabonomics Study to Identify Diffuse Axonal Injury Biomarkers in Rat.Disease markers · 2022Article
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8 authors at 3 institutions in 1 country.
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Abstract
introductionα-Thalassemia is the most common inherited disease in southern China. The severest form is hemoglobin (Hb) Bart's disease, in which the affected fetuses almost always die in utero or shortly after birth, and the mothers are at high risk for severe morbidity.
objectiveTo investigate the changes in all metabolites in fetuses with Hb Bart's disease and to characterize the metabolomic and lipidomic biomarkers in the development of Hb Bart's fetuses.
methodsAmniotic fluid (AF) specimens were selected from 34 pregnant women who underwent interventional prenatal diagnosis from June 2017 to June 2018. Gap-PCR analysis was used to diagnose Hb Bart's disease, and untargeted metabolomic and lipidomic analyses were performed.
resultsBy analyzing AF samples, 935 differential metabolites were selected between Hb Bart's and control fetuses. The metabolites with significant changes mainly involved D-glutamine and D-glutamate metabolism, histidine metabolism, arginine metabolism, beta-alanine metabolism and alanine, aspartate and glutamate metabolism. Further lipidomics analysis revealed 132 differential lipids, mainly involved phosphatidylcholine and triglyceride metabolism. Through the characterized metabolites in AF, a schematic model of Hb Bart's disease was established.
conclusionGlutamate and glutathione metabolism, aspartate metabolism, urea metabolism and triglyceride metabolism were significantly changed in the Hb Bart's group compared to the control group. The characterized biomarkers were mainly involved in oxidative stress reaction, iron overload and liver dysfunction. This finding may help improve the treatment options for α-thalassemia as well as diagnosing phenotype of patients.
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