Journal de bioanalyse et de biomédecine

Differentially Expressed Genes for Regulation of Fetal Hemoglobin Induction in Beta Thalassemia

Abstract

Khare Soumya1*, Chatterjee Tanushree1, Gupta Shailendra2 and Patel Ashish3

Beta thalassemia is a disorder in which the body is unable to synthesise haemoglobin beta subunit due to deleterious mutations in the β-globin gene that results in underproduction of Adult Haemoglobin (HbA). Fetal Haemoglobin (HbF), which is composed of two α and two γ subunits, has been identified as a potential substitute for HbA with great clinical significance in β-thalassaemic patients. However, in the developmental stages, the expression of HbF is gradually minimized and overtaken by HbA. Our research found that the investigation of blood expression and its relationship to DEGs may aid in elucidating the role of these DEGs in beta thalassemia progression, and an RNA sequencing study indicated that the β globin gene is down regulated. There are 200 genes that are differently expressed in β thalassemia patients compared to healthy controls, as well as two key genes. KLF1 and MDM2 are two potential target genes for beta thalassemia patients that could be employed as diagnostic indicators. The differentially expressed genes include genes involved in heme biosynthesis, heme binding, erythrocyte homeostasis, iron ion binding, erythrocyte differentiation, gas transport and response to oxygen species metabolic processes, and other cellular processes. However, functional studies are needed to confirm their proposed relevance in beta thalassemia.