ABSTRACT
Objectives 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.