Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Sickle cell disease (SCD) is a disorder characterized by a heterogeneous clinical outcome. In the present study, we investigated the associations between Interleukin-1Ý (IL-1Ý) +3954 C>T and Interleukin-6 (IL-6) (-174G>C and -597 G>A) gene polymorphisms and clinical and laboratory data in SCD patients. Methods: The study was conducted on 100 SCD patients (59 sickle cell anemia patients 2SS3 and 41 sickle beta thalassemia patients 2SÝ3). Fifty age and sex matched healthy volunteers were included in the current study as a control group. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique was performed for the detection of IL-1Ý and IL-6 gene mutations. Results: In the present work, the homomutant genotypes of IL-1Ý (+3954 C>T), IL-6 (-174G>C) and IL-6 (-597 G>A) were higher in SS patients when compared to control group but with no significant differences. These genotypes were also higher in SS patients when compared to SÝ patients with no significant differences. As regards the clinical complications, the mutant genotypes of IL-1Ý (+3954 C>T) had a higher frequency of splenomegaly in SÝ patients. The mutant genotypes of IL-6 (-174G>C) and IL-6 (-597 G>A) had a higher frequency of leg ulcers in SS patients. Conclusion: From these results we can conclude that IL-1Ý (+3954 C>T), IL-6 (-174G>C) and IL-6 (-597G>A) polymorphisms are not associated with susceptibility to the disease; however, they are associated with some SCD complications

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