BackgroundHigher fetal hemoglobin (HbF) levels can ameliorate the clinical severity of β-thalassemia. The use of integrative strategies to combine results from gene microarray expression profiling, experimental evidence, and bioinformatics helps reveal functional long noncoding RNAs (lncRNAs) in β-thalassemia and HbF induction.Material/MethodsIn a previous study, a microarray profiling was performed of 7 individuals with high HbF levels and 7 normal individuals. Thirteen paired samples were used for validation. lncRNA NR_001589 and uc002fcj.1 were chosen for further research. The quantitative reverse transcription-PCR was used to detect the expression levels of 2 lncRNAs. The Spearman correlation test was employed. The nuclear and cytoplasmic distribution experiment in K562 cells was used to verify the subcellular localization of 2 lncRNAs. Potential relationships among lncRNAs, predicted microRNAs (miRNAs), and target gene HBG1/2 were based on competitive endogenous RNA theory and bioinformatics analysis.ResultsAverage expression levels of NR_001589 and uc002fcj.1 were significantly higher in the high-HbF group than in the control group. A positive correlation existed between NR_001589, uc002fcj.1, and HbF. The expression of NR_001589 was in both the cytoplasm and the nucleus, mostly (77%) in the cytoplasm. The expression of uc002fcj.1 was in both the cytoplasm and the nucleus; the cytoplasmic proportion was 43% of the total amount. A triple lncRNA-miRNA-mRNA network was established.ConclusionsNovel candidate genetic factors associated with the HBG1/2 expression were identified. Further functional investigation of NR_001589 and uc002fcj.1 can help deepen the understanding of molecular mechanisms in β-thalassemia.
This study aimed to study the differences in Raman spectra of red blood cells (RBCs) among patients with β-thalassemia and controls using laser tweezers Raman spectroscopy (LTRS) system.A total of 33 patients with β-thalassemia major, 49 with β-thalassemia minor, and 65 controls were studied. Raman spectra of RBCs for each sample were recorded. Principal component analysis (PCA), one-way analysis of variance (ANOVA), and independent-sample t test were performed.The intensities of Raman spectra of β-thalassemia (major and minor) RBCs were lower than those of controls, especially at bands 1546, 1603, and 1619 cm–1. The intensity ratio of band 1546 cm–1 to band 1448 cm–1 demonstrated that there was a significant difference between the spectra of β-thalassemia major (mostly below 2.15) and those of controls. The spectra of controls could be well distinguished from those of β-thalassemia major using PCA. After normalization, the spectra of two different genotypes with β0/β0 mutations mainly overlapped, while those with β+/β+ mutations had lower intensity at bands 1546, 1603, and 1619 cm–1.The present study provided Raman characteristics of RBCs in patients with β-thalassemia major and supported the use of LTRS as a method for screening β-thalassemia major. The recognition rate for β-thalassemia minor needs to be further improved.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.