Results 41 to 50 of about 219,391 (317)

Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment

Thalassemia Reports
Thalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications.
Idris Zubairu Sadiq, Fatima Sadiq Abubakar, Hauwa Salisu Usman, Aliyu Dantani Abdullahi, Bashiru Ibrahim, Babangida Sanusi Kastayal, Maryam Ibrahim, Hassan Aliyu Hassan   +7 more
semanticscholar   +1 more source

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation

Drugs, 2020
Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1–5% of the global population are carriers for a genetic thalassemia mutation.
I. Motta, R. Bou-Fakhredin, A. Taher, M. Cappellini   +3 more
semanticscholar   +1 more source

Methods to assess iron and iodine status [PDF]

, 2008
Four methods are recommended for assessment of iodine nutrition: urinary iodine concentration, the goitre rate, and blood concentrations of thyroid stimulating hormone and thyroglobulin.
Zimmermann, M.B.
core   +2 more sources

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]

, 2017
Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Ali, Bassam R., Chondrou, Vasiliki, John, Anne, Kastrinou, Vlasia, Katsila, Theodora, Kolovos, Petros, Kourakli, Alexandra, Papachatzopoulou, Adamantia, Patrinos, George P., Pavlidaki, Alexia, Sgourou, Argyro, Symeonidis, Argiris   +11 more
core   +4 more sources

Prevalence of Alpha(α)-Thalassemia in Southeast Asia (2010–2020): A Meta-Analysis Involving 83,674 Subjects

International Journal of Environmental Research and Public Health, 2020
Alpha(α)-thalassemia is a blood disorder caused by many types of inheritable α-globin gene mutations which causes no-to-severe clinical symptoms, such as Hb Bart’s hydrops fetalis that leads to early foetal death. Therefore, the aim of this meta-analysis
L. P. W. Goh, E. Chong, Ping-Chin Lee
semanticscholar   +1 more source

Let’s talk about thal: How communication can improve quality of life

Thalassemia Reports, 2018
In many parts of the world, research, improved technology, and better medicine have enabled people with thalassemia to live longer. It is tragic that due to global disparity in healthcare, in areas of the world where thalassemia is most prevalent, the ...
Laurice M. Levine
doaj   +1 more source

The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]

, 2015
Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M, Campo-Fernandez, Beatriz, Cooper, Aaron R, Hoban, Megan D, Hollis, Roger P, Kaufman, Michael L, Kohn, Donald B, Lumaquin, Dianne, Romero, Zulema, Senadheera, Shantha, Urbinati, Fabrizia, Wang, Xiaoyan, Wherley, Jennifer   +12 more
core   +4 more sources

Gene replacement of α-globin with β-globin restores hemoglobin balance in β-thalassemia-derived hematopoietic stem and progenitor cells

Nature Network Boston, 2020
β-Thalassemia pathology is due not only to loss of β-globin (HBB), but also to erythrotoxic accumulation and aggregation of the β-globin-binding partner, α-globin (HBA1/2).
M. Cromer, J. Camarena, Renata M. Martin, Benjamin J. Lesch, Christopher A. Vakulskas, Nicole M. Bode, G. Kurgan, Michael A. Collingwood, G. Rettig, M. Behlke, Viktor T. Lemgart, Yankai Zhang, Ankush Goyal, Feifei Zhao, Ezequiel Ponce, W. Srifa, R. Bak, N. Uchida, R. Majeti, V. Sheehan, J. Tisdale, D. Dever, M. Porteus   +22 more
semanticscholar   +1 more source

Single‐Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics

Advanced Science, EarlyView.
A novel amino acid (aa)‐score‐based single‐position peptide clustering strategy is developed for peptidomics, enabling precise profiling of protein proteolysis in plasma from β‐thalassemia cohort. The method identifies new aa position‐based peptide cluster biomarkers validated by heavy‐labeled peptides, visualizes aggregated changes, uncovers disease ...
Na Li, Yaxin Zhu, Yumeng Yan, Jifeng Wang, Lili Niu, Xiang Ding, Mengmeng Zhang, Zhensheng Xie, Tanxi Cai, Xiaojing Guo, Jianming Luo, Peng An, Xiangqian Guo, Fuquan Yang   +13 more
wiley   +1 more source

The shortcut strategy for beta thalassemia prevention

Hematology Reports, 2018
We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples.
Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri   +6 more
doaj   +1 more source