MTHFR C677T Polymorphism, Plasma Homocysteine, and PDGF-AA Levels and Transcranial Doppler Velocity in Children With Sickle Cell Disease

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dc.contributor.authorMahmoud, Asmaa Aen_US
dc.contributor.authorHady, Nahla MS Abd Elen_US
dc.contributor.authorRizk, Mohammed Sen_US
dc.contributor.authorEl-Hawwary, Ahmed Men_US
dc.contributor.authorSaleh, Nagwan Yen_US
dc.date.accessioned2023-08-25T06:40:00Z
dc.date.available2023-08-25T06:40:00Z
dc.date.issued2023-08
dc.description.abstractObjective: To evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on plasma homocysteine (tHcy) and platelet-derived growth factor (PDGF-AA) levels in children with sickle cell disease (SCD), and ascertain their role in predicting high transcranial doppler velocity (TCD). Methods: We estimated MTHFRC677T gene polymorphism, plasma tHyc and PDGF-AA in 44 SCD patients and 44 healthy children. Results: The prevalence of mutant homozygous MTHFR (C677TT) in SCD was 13.6%. Significantly higher plasma tHcy was observed in mutant homozygous MTHFRC677TT patients. Significantly higher plasma tHcy and PDGF-AA levels were observed in SCD patients than in controls. Median (IQR) PDGF-AA levels were significantly higher in conditional and high-risk TCD patients as compared to low-riskTCD patients [325 (93.1-368) and 368 (111-480) vs 111 (56-201) pg/mL, respectively; P<0.001]. Mean (SD) tHcy levels were significantly higher in high-risk TCD children than low-risk TCD children (12.9 (2.7) vs 9.9 (2.5) µmol/L; P=0.006). The receiver operating characteristic revealed that the area under the curve (AUC) of PDGF-AA for high TCD velocity was 0.934 (95% CI 0.845-1.00; P<0.001) and tHcy had an AUC of 0.675 (95% CI 0.517-0.833; P=0.04). Conclusion: PDGF-AA and tHcy levels could be used as predictive markers for stroke in SCD children. MTHFR Polymorphism contributes to elevated tHcy levels.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Faculty of Medicine, Menoufia University, Shebin Elkom, Egypten_US
dc.identifier.affiliationsDepartment of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Menoufia University, Egypt.en_US
dc.identifier.citationMahmoud Asmaa A, Hady Nahla MS Abd El, Rizk Mohammed S, El-Hawwary Ahmed M, Saleh Nagwan Y. MTHFR C677T Polymorphism, Plasma Homocysteine, and PDGF-AA Levels and Transcranial Doppler Velocity in Children With Sickle Cell Disease. Indian Pediatrics. 2023 Aug; 60(8): 651-654en_US
dc.identifier.issn0079-6061
dc.identifier.issn0974-7559
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225452
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber8en_US
dc.relation.volume60en_US
dc.source.urihttps://indianpediatrics.net/aug2023/651.pdfen_US
dc.subjectHemoglobin Sen_US
dc.subjectManagementen_US
dc.subjectOutcomeen_US
dc.subjectStroke.en_US
dc.titleMTHFR C677T Polymorphism, Plasma Homocysteine, and PDGF-AA Levels and Transcranial Doppler Velocity in Children With Sickle Cell Diseaseen_US
dc.typeJournal Articleen_US
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