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

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.

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Publication Details

Journal
Annals of Hematology
Published
2026-02-04
DOI
https://doi.org/10.1007/s00277-026-06751-5
Primary Topic
Cancer-related molecular mechanisms research
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Mai El-Sayad Abd El-Hamid, Sabry Moawad Abdelmageed, Yasmin Mohsen, Eman Masoud Abd ElGayed et al.
Annals of Hematology
Cancer-related molecular mechanisms research
article

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

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

Abstract

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.

Annals of HematologyVol. 105(3)
Ain Shams University (EG), National Water Research Center (EG), Menoufia University (EG)
Menofia University
Good health and well-being
Openalex Percentile: Top 68%
Cancer-related molecular mechanisms research
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