<p>β-thalassemia is an inherited blood disorder with long-term associated complications. The purpose of this study was to evaluate the clinical significance of the <i>lncRNA-HBBP1</i> and <i>lncRNA-XIST</i> expression profiles in the diagnosis of β-thalassemia patients. One hundred children patients with β-thalassemia participated in this case-control study: 50 patients diagnosed as Beta Thalassemia Major (β-TM) and 50 patients diagnosed as Beta Thalassemia Intermedia (β-TI) groups. Furthermore, there were 50 children as healthy control group. Assessment of both genes’ expression was performed by RT-qPCR. The findings displayed that both <i>lncRNA-HBBP1 and lncRNA-XIST</i> were highly expressed within the β-TM group than in the β-TI and the control groups (<i>P</i> &lt; 0.001 for both). The <i>lncRNA-HBBP1</i> and <i>lncRNA-XIST</i> expression were significantly higher in β-thalassemia patients presented with jaundice, thalassemia facies, or organomegaly (<i>p</i> &lt; 0.001 for all). In addition, <i>lncRNA-XIST</i> expression was significantly higher in β-thalassemia patients with splenectomy (<i>p</i> = 0.002). Spearman correlation revealed that the expression of both genes was significantly correlated with HbF % in β-TM and β-TI groups (<i>p</i> &lt; 0.001 for both). Based on the ROC curve analysis, the sensitivity of <i>lncRNA-HBBP1</i> and <i>lncRNA-XIST</i> for discriminating the β-TM group from the β-TI group was 82% and 80%, respectively. Collectively, the examined lncRNAs could offer novel biomarkers for β-thalassemia disorder once confirmed in extensive upcoming investigations.</p>

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The impact of the expression signatures of LncRNAs HBBP1 and XIST on the diagnostic significance of patients with β-Thalassemia

  • Abdallah M. Gameel,
  • Shimaa Abdelsattar,
  • Zeinab A. Kasemy,
  • Mai El-Sayad Abd El-Hamid,
  • Eman Masoud Abd ElGayed,
  • Basma M. Abdelgawed,
  • Amira Fathy El-Fiky,
  • Mariam E. Labib,
  • Sabry M. Abdelmageed,
  • Mahmoud Ahmed El Hawy,
  • Yasmin Mohsen,
  • Hanan M. Bedair

摘要

β-thalassemia is an inherited blood disorder with long-term associated complications. The purpose of this study was to evaluate the clinical significance of the lncRNA-HBBP1 and lncRNA-XIST expression profiles in the diagnosis of β-thalassemia patients. One hundred children patients with β-thalassemia participated in this case-control study: 50 patients diagnosed as Beta Thalassemia Major (β-TM) and 50 patients diagnosed as Beta Thalassemia Intermedia (β-TI) groups. Furthermore, there were 50 children as healthy control group. Assessment of both genes’ expression was performed by RT-qPCR. The findings displayed that both lncRNA-HBBP1 and lncRNA-XIST were highly expressed within the β-TM group than in the β-TI and the control groups (P < 0.001 for both). The lncRNA-HBBP1 and lncRNA-XIST expression were significantly higher in β-thalassemia patients presented with jaundice, thalassemia facies, or organomegaly (p < 0.001 for all). In addition, lncRNA-XIST expression was significantly higher in β-thalassemia patients with splenectomy (p = 0.002). Spearman correlation revealed that the expression of both genes was significantly correlated with HbF % in β-TM and β-TI groups (p < 0.001 for both). Based on the ROC curve analysis, the sensitivity of lncRNA-HBBP1 and lncRNA-XIST for discriminating the β-TM group from the β-TI group was 82% and 80%, respectively. Collectively, the examined lncRNAs could offer novel biomarkers for β-thalassemia disorder once confirmed in extensive upcoming investigations.