Results 1 to 10 of about 965,280 (210)

Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells [PDF]

Cell Reports
Summary: The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the imbalance of β-globin and α-globin ...
Simon N. Chu, Eric Soupene, Devesh Sharma, Roshani Sinha, Travis McCreary, Britney Hernandez, Huifeng Shen, Beeke Wienert, Chance Bowman, Han Yin, Benjamin J. Lesch, Kun Jia, Kathleen A. Romero, Zachary Kostamo, Yankai Zhang, Tammy Tran, Marco Cordero, Shota Homma, Jessica P. Hampton, James M. Gardner, Bruce R. Conklin, Tippi C. MacKenzie, Vivien A. Sheehan, Matthew H. Porteus, M. Kyle Cromer   +24 more
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Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China [PDF]

Frontiers in Pediatrics, 2023
PurposeTo explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time.MethodsIn the present study, 1,438 newborns of the Li minority were collected from January ...
Kun Zhong, Haijie Shi, Wenli Wu, Haizhu Xu, Hui Wang, Zhendong Zhao   +5 more
doaj   +4 more sources

Abnormal hemoglobin anti-Lepore Hong Kong compound with β0-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia [PDF]

Scientific Reports
Abnormal hemoglobin anti-Lepore Hong Kong is a rare βδ fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2.
Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Li Du   +6 more
doaj   +3 more sources

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study [PDF]

Life Science Alliance, 2023
Causal MR study links α-thalassemia-related erythrocyte traits to cardiometabolic risks and diabetes susceptibility in Taiwan. Our study aimed to investigate if genetic variants around 16p13.3’s HBA1 locus, associated with erythrocyte indices and HbA1c ...
Lung-An Hsu, Semon Wu, Ming-Sheng Teng, Yu-Lin Ko   +3 more
doaj   +2 more sources

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion [PDF]

Scientific Reports, 2023
α-thalassemia is an inherited blood disorder that is most frequently found in Southeast Asian populations. In Thailand, molecular characterization can diagnose most patients with α-thalassemia; however, several atypical patients are also observed in ...
Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan   +3 more
doaj   +2 more sources

Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese [PDF]

Frontiers in Genetics
ObjectiveThis study aimed to develop and assess a novel reverse dot blot assay for the simultaneous detection of 10 types of α-thalassemia alleles in the Chinese population, including six common variants of–SEA, -α3.7, -α4.2, αCS, αQS, and αWS, and four ...
Yi-Yuan Ge, Jun Xie, Yu-Wei Liao, Long-Xu Xie, Li-Ye Yang   +4 more
doaj   +2 more sources

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Frontiers in Pediatrics, 2022
BackgroundThalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia are important for designing appropriate prevention strategies for thalassemia.
Ying Yu, Chunjiao Lu, Ying Gao, Cuiyun Li, Dongxue Li, Jie Wang, Jie Wang, Hui Wei, Zhaohui Lu, Zhaohui Lu, Guoling You, Guoling You   +11 more
doaj   +1 more source

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

Frontiers in Pediatrics, 2021
Background: Thalassemia is one of the most common genetic diseases in southern China. Howerver, population in different regions or different population has their own spectrums of thalassemia.
Sheng He, Dongming Li, Shang Yi, Xiuning Huang, Chaofan Zhou, Biyan Chen, Yangjin Zuo, Li Lin, Faqin Chen, Hongwei Wei   +9 more
doaj   +1 more source

THE CORRELATION OF β/α MRNA RATIO WITH CLINICAL AND HEMATOLOGICAL PARAMETERS IN PATIENTS WITH β-THALASSEMIA SYNDROME

The Iraqi Journal of Medical Sciences, 2022
Background: Thalassemias are a group of genetically transmitted blood diseases characterized by defects in the production of α- or β-chains of hemoglobin called α-thalassemia and β-thalassemia, respectively.
May H. Yousif, Hind S. Al-Mamoori
doaj   +1 more source

Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China

Hematology, 2022
Objectives: Thalassemia, the most common global monogenetic disorder, is highly prevalent in southern China. Epidemiological and molecular characterization of thalassemia is important for designing appropriate prevention strategies in high-risk areas ...
GuiDan Xu, ChunFang Wang, JunLi Wang, Min Lin, ZhengYi Chang, JuHua Liang, XiaoHao Chen, ShiMao Zhong, XueJuan Nong, WuJun Wei, YiBin Deng   +10 more
doaj   +1 more source