الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 128 |  |  |
| | | from | 128 | | |
Abstract
Background: Hemophilia A is the most common inheritable coagulation deficiency (porada et al., 2014). Additionally, HA prevalence has been reported to be 1:5.000 male live births (Bertamino et al., 2017). Furthermore, In Egypt, a previous epidemiological study has revealed that hemophilia A is the most common inherited bleeding disorder then hemophilia B (AL Tonbary et al., 2010). Tumour necrosis factor (TNF) is a cytokine with pleomorphic actions. TNF-α is pivotal in host defense against infections and has a major role in autoimmune diseases as well. The gene for TNF-α is located within the major histocompatibility complex (MHC) region on chromosome 6p21.3 which is a highly polymorphic region. There are many biallelic single nucleotide polymorphisms (SNPs) in and around the TNF-α gene. One such G/A polymorphism is located upstream of gene at -308 and is known to influence TNF-α levels. As compared with the - TNF-α-308G allele, A allele has higher transcriptional activity (Astermark et al., 2006; Sandhya et al., 2013). Aim of the work : We aimed to study TNF-α-308 gene polymorphism in Egyptian children with moderate and severe hemophilia A and correlate the studied genotypes of TNF α polymorphism with the clinical phenotypes of the patients & inhibitors development. Materials and Methods: This study case control study comprising 45 Hemophilia A patients & 45 controls of matched age &sex. This study was carried out at hematology outpatient clinic at Mansoura University Children’s Hospital and control cases were not relatives collected from outpatient clinics. Results: No significant difference was found between patients & controls as regard genotype & allelic TNF-α-308 G/A gene polymorphism. However, prevalence of GG genotype was noticed to be high among patients and controls (84.4% & 93.3% respectively). Conclusion: . TNF-α-308 gene polymorphism showed no correlation with the disease severity or inhibitor development. This study is limited by small sample size and its retrospective design. Prospective studies, including polymorphism in other immune-regulatory genes, are recommended in newly diagnosed patients to determine the frequency of inhibitors formation and the risk factors associated with their development.