New Insights into Clinical Management for Sickle Cell Disease: Uncovering the Significant Pathways Affected by the...

One of the severe monogenic conditions with the highest prevalence in the globe is sickle cell disease. Although the significance of chronic anemia, hemolysis, and vasculopathy has been established, hemoglobin polymerization, which results in erythrocyte stiffness and Vaso-occlusion, is important to the pathophysiology of this disease. Clinical management is elementary, and there is scant reliable data for many treatments. The onset of cerebrovascular illness and cognitive impairment are two of the major issues associated with sickle cell disease in children, and it is only now that researchers are beginning to understand how blood transfusions and hydroxycarbamide can prevent these complications. When Vaso occlusion and inflammation occur repeatedly, the majority of organs are gradually damaged, including the brain, kidneys, lungs, bones, and cardiovascular system. This damage worsens with age. In our study, we focused on the specific pathways which are affected by the involvement of effected genes. Firstly, we retrieved the gene datasets from the publically available data source website DisGNET. Using literature-based genes, we identified 290 highly regulated genes that are directly associated with sickle cell disease. We subsequently performed a gene expression analysis and extracted a gene set using GEO2R analysis, which was then used to prune 290 differentially expressed genes (DEGs). After pruning we got 60 highly expressed genes. After identification of DEGs, we used these genes for pathway analysis. For the pathway analysis, we used Reactome software and we found that these DEGs are directly associated with 7 different pathways, which are alpha beta signaling pathways, 15 antiviral mechanism, Oligoadenylate synthetase (OAS) antiviral response, interleukin 1 signaling pathways, interleukin 4 and 13, interleukin 10 signaling pathway, and aspirin ADME pathway. After pathway analysis, we can exactly relate how sickle cell disease alters the gene expression and how these genes affect the different pathways. Additionally, we performed gene ontology of 60 genes and identified the gene biological process, cellular component, and molecular functions as we mentioned in our results. With the help of our study data, there is a chance for pre-identification of sickle cell disease person. Our gene result was used as a biomarker of sickle cell disease. In this paper, our result is the primary approach for sickle cell disease; with the help of this paper any researcher can get their primary data and use that for further research.