الفهرس 
Title : Study of IL-IB +3954 Polymorphism and its clinical associations in sickle Cell Anemia Pediatric Patients
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Abstract
Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin- 1 beta (IL-1Ý) is important in acute and chronic diseases, and their single nucleotide polymorphisms (SNP) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1Ý SNP as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 50 SCA patients and 50 age, sex and ethnicity-matched healthy individuals. The SNP was identified by PCR-RFLP for IL-1Ý (+3954C / T) gene. Associations between these SNP and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1Ý SNP between patients with SCA and controls were similar. IL-1Ý +3954C / T SNP was associated with increased risk of elevated pulmonary arterial pressure, vaso-occulusive crisis, osteonecrosis and cholelithiasis. These data indicate that IL-1Ý gene SNP is associated with SCA complications among Egyptians patients and may act as genetic predictors of SCA clinical heterogeneity