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.
Authors
- Mai El-Sayad Abd El-Hamid (ORCID: https://orcid.org/0000-0002-9520-5708)
- Sabry Moawad Abdelmageed
- Yasmin Mohsen
- Eman Masoud Abd ElGayed
- Abdallah M. Gameel (ORCID: https://orcid.org/0000-0003-4632-015X)
- Shimaa Shimaa Abdelsattar
- Mariam E Labib
- Zeinab Abdelaziz Kasemy
- Amira Fathy El-Fiky
- Mahmoud Ahmed El Hawy
- Hanan M. Bedair
- Basma M. Abdelgawed
Institutions
- Ain Shams University (EG)
- National Water Research Center (EG)
- Menoufia University (EG)
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
Funders
- Menofia University