Frontiers of Medicine

, Volume 11, Issue 1, pp 74–86 | Cite as

Changes in lncRNAs and related genes in β-thalassemia minor and β-thalassemia major

  • Jing Ma
  • Fei Liu
  • Xin Du
  • Duan Ma
  • Likuan Xiong
Research Article


β-thalassemia is caused by β-globin gene mutations. However, heterogeneous phenotypes were found in individuals with same genotype, and still undescribed mechanism underlies such variation. We collected blood samples from 30 β-thalassemia major, 30 β-thalassemia minor patients, and 30 matched normal controls. Human lncRNA Array v2.0 (8 × 60 K, Arraystar) was used to detect changes in long non-coding RNAs (lncRNAs) and mRNAs in three samples each from β-thalassemia major, β-thalassemia minor, and control groups. Compared with normal controls, 1424 and 2045 lncRNAs were up- and downregulated, respectively, in β-thalassemia major patients, whereas 623 and 349 lncRNAs were up- and downregulated, respectively, in β-thalassemia minor patients. Compared with β-thalassemia minor group, 1367 and 2356 lncRNAs were up- and downregulated, respectively, in β-thalassemia major group. We selected five lncRNAs that displayed altered expressions (DQ583499, X-inactive specific transcript (Xist), lincRNA-TPM1, MRFS16P, and lincRNA-RUNX2-2) and confirmed their expression levels in all samples using real-time polymerase chain reaction. Based on coding-noncoding gene co-expression network and gene ontology biological process analyses, several signaling pathways were associated with three common organ systems exhibiting β-thalassemia phenotypes: hematologic, skeletal, and hepatic systems. This study implicates that abnormal expression levels of lncRNAs and mRNA in β-thalassemia cases may be correlated with its various clinical phenotypes.


β-thalassemia long non-coding RNA mRNA phenotypic heterogeneity pathway 


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We thank all donors who participated in this program, all of our colleagues at Bao’an Maternal and Children Health Hospital, and all those who contributed to microarray service at Kang Chen Biotechnology Company in Shanghai. This work was supported by grants from the Science and Technology Plan of Shenzhen City, Guangdong Province, China (No. JCYJ20130402151000859), the Shanghai Science and Technology Commission Major Project (No. 11dz1950300), and the Key Project of the Shanghai Municipal Commission of Health and Family Planning (No. 2013ZYJB0015).

Supplementary material

11684_2017_503_MOESM1_ESM.xls (18 kb)
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Copyright information

© Higher Education Press and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Central LaboratoryBao’an Maternal and Children Health Hospital, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation TeamShenzhenChina
  2. 2.Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institute of Medical Sciences, School of Basic Medical SciencesFudan UniversityShanghaiChina
  3. 3.Department of HematologyThe Second People’s HospitalShenzhenChina

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