Results 41 to 50 of about 42,354 (173)

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand

Annals of Medicine
Background Thalassemia is the most common hereditary anemia worldwide. Beta-thalassemia results from mutations in HBB gene, causing either absent (β0) or decreased (β+) production of β-globin.
Punwadee Rukwong, Rungrote Natesirinilkul, Lalita Sathitsamitphong, Chane Choed-Amphai, Adisak Tantiworawit, Kanda Fanhchaksai, Supawadee Maneekesorn, Pimlak Charoenkwan   +7 more
doaj   +1 more source

MOESM2 of A validated cellular biobank for β-thalassemia

, 2016
Additional file 2: Table S2. HbF and HbA2 production in ErPC cultures from 14 β-thalassemia patients after 4 and 8 days differentiation.
Cosenza, Lucia, Breda, Laura, Breveglieri, Giulia, Zuccato, Cristina, Finotti, Alessia, Lampronti, Ilaria, Borgatti, Monica, Chiavilli, Francesco, Gamberini, Maria, Satta, Stefania, Manunza, Laura, Martis, Franca, Moi, Paolo, Rivella, Stefano, Gambari, Roberto, Bianchi, Nicoletta   +15 more
openaire   +1 more source

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population

Archives of Medical Science, 2020
Introduction Elevated hemoglobin (Hb) A 2 is an important diagnostic marker for β-thalassemia carriers. However, diagnosis of cases with borderline Hb A 2 may be problematic.
Hataichanok Srivorakun, Wachiraporn Thawinan, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen   +4 more
doaj   +1 more source

Genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To investigate the genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes.Methods·A retrospective cohort study was conducted among 3 649 pregnant women enrolled from January 2021 to ...
Li Jing, Liang Xuxia, Wu Hua, Zhang Chun, Lu Yanqun, Zhang Jihong   +5 more
doaj   +1 more source

Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β–Thalassemia

Biomolecules, 2021
Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe.
Nur Atikah Zakaria, Md Asiful Islam, Wan Zaidah Abdullah, Rosnah Bahar, Abdul Aziz Mohamed Yusoff, Ridhwan Abdul Wahab, Shaharum Shamsuddin, Muhammad Farid Johan   +7 more
doaj   +1 more source

The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China

Frontiers in Genetics, 2022
Background: Thalassemia is a common inherited hematological disease with genetic disorders characterized by imbalanced synthesis of the globin chains.
Jingxian Ding, Zhaohui Huang, Xiaoliu Jiang, Qingge Li, Yali Cao, Yonghong Guo   +5 more
doaj   +1 more source

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing

Advanced Science, EarlyView.
A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +11 more
wiley   +1 more source

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.
Jiajia Xian MD, Yanchao Wang MD, Jianchun He MD, Shaoying Li MD, Wenzhi He MD, Xiaoyan Ma MD, Qing Li PhD   +6 more
doaj   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source