Results 61 to 70 of about 42,354 (173)

Diagnose Mutations Causes Î’-Thalassemia: Biomining Method Using an Optimal Neural Learning Algorithm

International Journal of Engineering and Technology, 2019
The problems in genome and proteome classification of mutations causing a thalassemia are synthesis, e.g. which thalassemia's database will choose? and then the technique that used in biomining to classify mutations causing thalassemia who can say is effective/optimal.
openaire   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

Journal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade, Mahsa Kiani Bigdeli, Seyed Sajad Eghbali, Mohammadtaghi Ghiyasi, Roz Rastgoo, Mohammad Javad Mousavi   +5 more
wiley   +1 more source

Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia

Therapeutic Advances in Hematology, 2022
Background: β-thalassemia is a hereditary blood disorder resulting in ineffective erythropoiesis and anemia. Management of anemia with regular blood transfusions is associated with complications including iron overload.
Antonio Piga, Filomena Longo, Maria Rita Gamberini, Ersi Voskaridou, Paolo Ricchi, Vincenzo Caruso, Antonello Pietrangelo, Xiaosha Zhang, Jeevan K. Shetty, Kenneth M. Attie, Immacolata Tartaglione   +10 more
doaj   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source

Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening

Journal of Clinical Laboratory Analysis, EarlyView.
In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha, Anupong Pansuwan, Hataichanok Srivorakun, Attawut Chaibunruang, Supawadee Yamsri, Wanicha Tepakhan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen   +8 more
wiley   +1 more source

β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15

Haematologica, 2008
β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene.
Jan-Gowth Chang, Wen-Chan Tsai, Inn-Wen Chong, Chao-Sung Chang, Chyi-Chang Lin, Ta-Chih Liu   +5 more
doaj   +1 more source

Cerebral Blood Transit in Sickle Cell Anemia

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Sickle cell anemia (SCA) patients upregulate cerebral blood flow to compensate for decreased arterial oxygen content. Such hyperemic conditions can manifest as venous hyperintense signal on arterial spin labeling (ASL) MRI, which may reflect faster capillary blood transit, altered oxygen extraction fraction (OEF), and infarct risk ...
Wesley T. Richerson, Megan A. Aumann, Alexander K. Song, Samantha Davis, Lauren Milner, Maria Garza, Dann Martin, L. Taylor Davis, Sumit Pruthi, Lori C. Jordan, Manus J. Donahue   +10 more
wiley   +1 more source

Mutational analysis of the Janus kinase II (V617F) gene in patients with β-Thalassemia major

Zanco Journal of Pure and Applied Sciences, 2020
β-Thalassemia is a group of congenital hemolytic anemia that characterized by the underproduction of the indispensable hemoglobin molecule, the oxygen and carbon dioxide carrying protein inside the red cells.
Salar Adnan Ahmed
doaj   +1 more source