Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?

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dc.contributor.authorHassab, Hodaen_US
dc.contributor.authorChazli, Yasmine Elen_US
dc.contributor.authorHanafi, Marwaen_US
dc.contributor.authorElbeheiry, Ahmeden_US
dc.contributor.authorHassan, Monaen_US
dc.date.accessioned2023-08-19T04:53:37Z
dc.date.available2023-08-19T04:53:37Z
dc.date.issued2023-02
dc.description.abstractObjectives To evaluate the relationship between TGFBR3 rs284875 single nucleotide polymorphism (SNP) state and silent cerebral infarction (SCI) in asymptomatic patients with sickle cell disease (SCD). Methods A cross-sectional study was conducted on 50 children with SCD above 2 y of age followed up at the hematology outpatient clinic of Alexandria University Children's Hospital in Egypt. Twenty-four healthy children were included as a control group. All patients included in the study were subjected to complete history and clinical examination. Real-time polymerase chain reaction was performed on patients and controls for identifcation of SNP rs284875 of the TGFBR3 gene. A magnetic resonance imaging (MRI) of the brain were performed only on patients for detection of SCI. Results Fifty SCD patients were enrolled (26 males and 24 females), with a median age of 10.9 y (2.3–17.8 y), and 24 children as healthy control for the studied SNP. Thirty-fve (70%) patients had homozygous SCD, while 30% had sickle ?-thalassemia. The brain MRI was normal in all the patients except for 2 patients who had features of SCI. The TGFBR3 rs284875 SNP was detected in 15 (30%) patients in the homozygous state (GG) versus only 1 (4.2%) child from the control group (p=0.003). The prevalence of SCI was low in the study population and there was no statistically signifcant relationship between the TGFBR3 rs284875 SNP status and the presence of SCI in the brain MRI (p=0.621). Conclusions This study confrmed a low prevalence of SCI in the SCD patient included in the study. The TGFBR3 rs284875 SNP did not signifcantly increase SCI among those patients.en_US
dc.identifier.affiliationsDepartment of Pediatrics, Hematology, and Oncology Unit, Faculty of Medicine, Alexandria University, Alexandria 21256, Egypten_US
dc.identifier.affiliationsDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypten_US
dc.identifier.affiliationsDepartment of Radiodiagnosis and Intervention, Faculty of Medicine, Alexandria University, Alexandria, Egypten_US
dc.identifier.affiliationsDepartment of Pediatrics, Faculty of Medicine, Helwan University, Cairo, Egypten_US
dc.identifier.citationHassab Hoda, Chazli Yasmine El, Hanafi Marwa, Elbeheiry Ahmed, Hassan Mona. Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?. Indian Journal of Pediatrics. 2023 Feb; 90(2): 146–152en_US
dc.identifier.issn0973-7693
dc.identifier.issn0019-5456
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/223745
dc.languageenen_US
dc.publisherDr. K C Chaudhuri Foundationen_US
dc.relation.issuenumber2en_US
dc.relation.volume90en_US
dc.source.urihttps://doi.org/10.1007/s12098-022-04181-5en_US
dc.subjectSickle cell diseaseen_US
dc.subjectSilent cerebral infarcten_US
dc.subjectTGFBR3en_US
dc.subjectMRIen_US
dc.subjectChildrenen_US
dc.titleDoes TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?en_US
dc.typeJournal Articleen_US
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