Background: This study focuses on the discovery of protein biomarkers from the maternal serum of β-thalassemic trait mothers carrying the normal fetus and β-thalassemic major fetus.
Methods: Serum samples from β-thalassemic trait mothers carrying major (N = 5) and normal fetuses (N = 5) were studied. The IVS1-5 thalassemia mutation was common among β-thalassemic trait mothers who were carrying a homozygous β-thalassemic fetus (IVS1-5/ IVS1-5 mutation) or a normal fetus (no mutation). We employed two-dimensional gel electrophoresis and mass spectrometry analysis to explore differentially expressed maternal serum proteins from thalassemia carrier couples with the same β-thalassemia mutation. Western blotting was performed for one of the identified proteins to validate our data.
Results: Ten proteins were identified in the maternal serum of β-thalassemic trait mothers carrying the β-thalassemic major fetus and normal fetus. Among these, serotransferrin, haptoglobin, α-1 anti-trypsin, apo-lipoprotein A1, and the fibrinogen-β chain were found to be upregulated in mothers carrying major fetuses and are known to be associated with pregnancy-related disorders. The expression of α-1 anti-trypsin was validated through western blotting.
Conclusions: Proteins identified in the current study from maternal serum are reported to contribute to hereditary disorders. We suggest that these can serve as putative screening markers for non-invasive prenatal diagnosis in β-thalassemic pregnancies.
Keywords: IVS1-5 mutation; maternal serum; prenatal diagnosis; β-thalassemic major fetus.
© 2021 Japan Pediatric Society.