Results 21 to 30 of about 219,391 (317)

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Clinical and applied thrombosis/hemostasis, 2022
Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia.
J. Xian, Yan-Chao Wang, Jianchun He, Shao-ying Li, W. He, Xiao-yan Ma, Qing Li   +6 more
semanticscholar   +1 more source

Analysis of rare thalassemia genetic variants based on third-generation sequencing

Scientific Reports, 2022
Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging.
Cuiting Peng, Haixia Zhang, Junkai Ren, H. Chen, Ze Du, Tong Zhao, Aiping Mao, Ruofan Xu, Yulin Lu, He Wang, Xinlian Chen, Shanling Liu   +11 more
semanticscholar   +1 more source

A systematic review of quality of life in sickle cell disease and thalassemia after stem cell transplant or gene therapy.

Blood Advances, 2021
Patients with sickle cell disease (SCD) and thalassemia experience several complications across their lifespan that lead to impairment in different health-related quality of life (HRQOL) domains.
S. Badawy, Usman Beg, R. Liem, S. Chaudhury, A. Thompson   +4 more
semanticscholar   +1 more source

The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.

Journal of Clinical Investigation, 2021
Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblasts and erythrocytes, impacting ...
A. Matte, E. Federti, C. Kung, P. Kosinski, R. Narayanaswamy, R. Russo, Giorgia Federico, F. Carlomagno, M. A. Desbats, L. Salviati, C. Leboeuf, M. Valenti, F. Turrini, A. Janin, Shaoxia Yu, E. Beneduce, Sébastien Ronseaux, I. Iatcenko, L. Dang, T. Ganz, Chun‐Ling Jung, A. Iolascon, C. Brugnara, L. De Franceschi   +23 more
semanticscholar   +1 more source

Pathomechanisms of Immunological Disturbances in β-Thalassemia

International Journal of Molecular Sciences, 2021
Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis.
Anna Gluba-Brzózka, Beata Franczyk, Magdalena Rysz-Górzyńska, Robert Rokicki, M. Koziarska-Rościszewska, J. Rysz   +5 more
semanticscholar   +1 more source

Thalassemia, a human blood disorder.

Brazilian journal of biology = Revista brasleira de biologia, 2021
A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or
F. Shafique, S. Ali, T. Almansouri, F. V. van Eeden, N. Shafi, M. Khalid, S. Khawaja, S. Andleeb, Muhammad Khairul Ali Hassan   +8 more
semanticscholar   +1 more source

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Journal of Human Genetics, 2021
To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and phenotypes of rare thalassemia gene variants, we used 434 cases
Shi-qiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Qingyan Zhong, Aiping Mao, Ruofan Xu, Tizhen Yan   +8 more
semanticscholar   +1 more source

A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.

New England Journal of Medicine, 2020
BACKGROUND Patients with transfusion-dependent β-thalassemia need regular red-cell transfusions. Luspatercept, a recombinant fusion protein that binds to select transforming growth factor β superfamily ligands, may enhance erythroid maturation and reduce
M. Cappellini, V. Viprakasit, A. Taher, P. Georgiev, K. Kuo, T. Coates, E. Voskaridou, H. Liew, Idit Pazgal-Kobrowski, G. Forni, S. Perrotta, A. Khelif, A. Lal, A. Kattamis, E. Vlachaki, R. Origa, Y. Aydinok, M. Bejaoui, P. Ho, L. Chew, P. Bee, Soo-Min Lim, Meng-Yao Lu, A. Tantiworawit, P. Ganeva, L. Gercheva, Farrukh T Shah, E. Neufeld, A. Thompson, A. Laadem, J. Shetty, J. Zou, Jennie Zhang, D. Miteva, T. Zinger, P. Linde, M. Sherman, O. Hermine, J. Porter, A. Piga, Believe Investigators   +40 more
semanticscholar   +1 more source

Molecular basis and diagnosis of thalassemia

Blood Research, 2021
Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current ...
Jee-Soo Lee, Sung Im Cho, S. Park, M. Seong   +3 more
semanticscholar   +1 more source

Interferon free antiviral treatment of chronic hepatitis C in patients affected by β-thalassemia major [PDF]

, 2017
Chronic hepatitis C (CHC) significantly affects the prognosis of liver disease [1] and health related quality of life (HRQOL) in patients with β-thalassemia major [2, 3].
Biliotti, Elisa, Esvan, Rozenn, Franchi, Cristiana, Palazzo, Donatella, Serani, Marco, Silvestri, Alessandro M., Sorrentino, Francesco, Spaziante, Martina, Taliani, Gloria, Volpicelli, Lorenzo   +9 more
core   +1 more source