Β-THALASSEMIA

作品数：36被引量：264H指数：7
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相关作者：林霞陈志斌胡志华苏群豪姚红霞更多>>
相关机构：海南医学院附属医院复旦大学更多>>
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Activation ofγ-globin expression by a common variant disrupting IKAROS-binding motif inβ-thalassemia
《Journal of Genetics and Genomics》2025年第2期157-167,共11页Hualei Luo Jueheng Wang Lang Qin Xinhua Zhang Hailiang Liu Chao Niu Mengyang Song Congwen Shao Peng Xu Miao Yu Haokun Zhang Yuhua Ye Xiangmin Xu 
supported by the National Natural Science Foundation of China(U20A20353 to X.Xu and 81900185 to Y.Ye).
Programmed silencing ofγ-globin genes in adult erythropoiesis is mediated by several chromatin remodeling complexes,which determine the stage-specific genome architecture in this region.Identification of cis-or trans...
关键词：Β-THALASSEMIA Fetal hemoglobin Single nucleotidepolymorphism IKAROS Locus control region 
Liver disease in patients with transfusion-dependentβ-thalassemia:The emerging role of metabolism dysfunction-associated steatotic liver disease
《World Journal of Hepatology》2024年第5期671-677,共7页Nikolaos Fragkou Efthimia Vlachaki Ioannis Goulis Emmanouil Sinakos 
In this Editorial,we highlight the possible role that metabolism dysfunction-associated steatotic liver disease(MASLD)may play in the future,regarding liver disease in patients with transfusion-dependent β-thalassemi...
关键词：Metabolism dysfunction-associated steatotic liver disease Transfusion-dependent thalassemia Metabolic syndrome Hepatic steatosis Non-invasive markers Liver fibrosis 
Clinical Insights:Prevalence of β-Thalassemia Mutations(IVSI-5,FSC8/9,and CD41/42)in the Swat District
《Journal of Bio-X Research》2024年第1期1-7,共7页Sumaia Saif Shah Lila Gulalai Ghani Murad Ali Rahat Akhtar Rasool Muhammad Israr 
Background:Thalassemia is a prevalent condition characterized by decreased production or absence of hemoglobin globin chains.There are 2 types of thalassemia,alpha thalassemia and beta thalassemia(β-thalassemia),clas...
关键词：THALASSEMIA annually Pakistan 
Therapeutic genome editing of an aberrant splice site inβ-thalassemia by CRISPR/Cas9 with multiple sgRNAs被引量：1
《Genes & Diseases》2024年第1期15-18,共4页Fei Yang Shuqian Xu Chao Huang Zhiqiang Shao Yuefen Hu Yang Yang Yongrong Lai Qing Ke Dan Liang Yuxuan Wu 
supported by the National Key R&D Program ofChina(No.2019YFA0109900,2019YFA0109901,2019YFA0802800,2019YFA0110803,2021YFC2700901);the Shanghai Municipal Commission for Science and Technology(No.19PJ1403500);the National Natural Science Foundation of China(No.82101802,81300383);the Scientific Research of BSKY(No.XJ2020025)from Anhui Medical University,and the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(No.2019PT310002);Young Taishan Scholar Foundation of Shandong Province,China(No.tsqn202103167);Clinical Research Center of Shandong University(China)(No.2020SDUCRCC015).
Genetic mutations cause aberrant splicing,one of the important molecular mechanisms in human diseases.Ivs2-654,a mutation causing aberrant splicing ofβ-globin premRNA and contributing toβ-globin deficiency,is one of...
关键词：CRISPR/Cas9 China THALASSEMIA 
Myeloproliferative neoplasms complicated withβ-thalassemia:Two case report
《World Journal of Clinical Cases》2022年第29期10655-10662,共8页Neng-Wen Xu Lin-Jie Li 
BACKGROUND BCR-ABL-negative myeloproliferative neoplasms(MPNs)are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages and by mutually exclusive JAK2 V617F,CALR,a...
关键词：Myeloproliferative Neoplasms Β-THALASSEMIA Somatic gene mutation Germline gene mutation Case report 
Direct antiglobulin test-negative autoimmune hemolytic anemia in a patient withβ-thalassemia minor during pregnancy:A case report被引量：1
《World Journal of Clinical Cases》2022年第4期1388-1393,共6页Yang Zhou Yi-Ling Ding Li-Juan Zhang Mei Peng Jian Huang 
BACKGROUND Severe refractory anemia during pregnancy can cause serious maternal and fetal complications.If the cause cannot be identified in time and accurately,blind symptomatic support treatment may cause serious ec...
关键词：Maternal anemia β-thalassemia minor Autoimmune hemolytic anemia Direct antiglobulin test PREGNANCY Case report 
Safety and efficacy of thalidomide in patients with transfusiondependentβ-thalassemia:a randomized clinical trial被引量：9
《Signal Transduction and Targeted Therapy》2021年第12期3723-3729,共7页Jiang-Ming Chen Wei-Jian Zhu Jie Liu Gui-Zhen Wang Xiao-Qin Chen Yun Tan Wei-Wei Xu Li-Wei Qu Jin-Yan Li Huan-Ju Yang Lan Huang Ning Cai Wei-Da Wang Ken Huang Jian-Quan Xu Guo-Hui Li Sheng He Tian-Ying Luo Yi Huang Song-Hua Liu Wen-Qiang Wu Qi-Yang Lu Mei-Guang Zhou Shu-Ying Chen Rong-Lan Li Mei-Ling Hu Ying Huang Jin-Hua Wei Jun-Min Li Sai-Juan Chen Guang-Biao Zhou 
This work was supported by the National Key Research and Development Program of China(No.2020YFA0803300);the CAMS Innovation Fund for Medical Sciences(CIFMS,Nos.2021-RC310-003,2020-RC310-002);CAMS Initiative for Innovative Medicine(2021-1-I2M-012);the Key Project of the National Natural Science Foundation of China(81830093);Guangxi Natural Science Foundation(2020GXNSFAA159097);the Funding for Guangxi Thalassemia Prevention Capacity Improvement Project,the Overseas Expertise Introduction Project for Discipline Innovation(111 Project,B17029);the Double First-Class Project(WF510162602)of Shanghai Jiao Tong University;Shanghai Collaborative Innovation Program on Regenerative Medicine and Stem Cell Research(2019CXJQ01);Shanghai Guangci Translational Medical Research Development Foundation.
Thalidomide inducesγ-globin expression in erythroid progenitor cells,but its efficacy on patients with transfusion-dependentβ-thalassemia(TDT)remains unclear.In this phase 2,multi-center,randomized,double-blind clin...
关键词：TRANSFUSION PATIENTS THALIDOMIDE 
Molecular Spectrum ofα-andβ-Thalassemia among Young Individuals of Marriageable Age in Guangdong Province,China被引量：4
《Biomedical and Environmental Sciences》2021年第10期824-829,共6页ZHOU Bing Yi& WANG Yong Xia XU Shan Shan GU Heng LI Ming Zhen 
the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033]。
Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong P...
关键词：GUANGDONG PREVENTION MARRIAGE 
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia
《四川生理科学杂志》2020年第4期506-506,共1页Haydar Frangoul 
Transfusion-dependent β-thalassemia(TDT)and sickle cell disease(SCD)are severe monogenic diseases with severe and potentially life-threatening manifestations.BCL11A is a transcription factor that represses γ-globin ...
关键词：FETAL TRANSFUSION patients 
Acute lymphoblastic leukemia in a β-thalassemia intermedia child: A case report
《World Journal of Clinical Pediatrics》2020年第1期1-6,共6页Laila M Sherief Esmael Goneim Naglaa M Kamal Amr Ibraheim Fuad Alsofiani Abdulraouf Alawur 
BACKGROUNDβ-thalassemia intermedia(βTI)is one of the hemoglobinopathies.It constitutes 10%ofβ-thalassemia cases yet being associated with a better quality of life thanβ-thalassemia major(βTM).CASE SUMMARY We rece...
关键词：Acute lymphoblastic leukemia Thalassemia intermedia Children MALIGNANCIES Iron overload HYDROXYUREA Case report 
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