Results 61 to 70 of about 779,152 (196)

Co-Inheritance of Heterozygous β⁰-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia

Thalassemia Reports, 2022
This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers ...
Hossein Jalali, Hossein Karami, Mohammad Reza Mahdavi, Mehrad Mahdavi   +3 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

How early can myocardial iron overload occur in Beta thalassemia major?

, 2014
BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM.
Gaohui Yang, Pan Hongfei, He, T, Lai, Y, Peng, P, Liu Rongrong, Long, X, Taigang He, Tan Shaohong, Liu, R, Hongfei Pan, Yang Weijia, Xingjiang Long, Rongrong Liu, Lai Yongrong, Yang Gaohui, He Taigang, Weijia Yang, Yang, G, Xinhua Zhang, Tan, S, Liling Long, Anderson Lisa, Lisa Anderson, Long Xingjiang, Yang, W, Zhang, X, Anderson, L, Peng Peng, Yongrong Lai, Zhang Xinhua, Long Liling, Pan, H, Shaohong Tan, Long, L   +34 more
core   +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

Right ventricular volumes and function in thalassemia major patients in the absence of myocardial iron overload

, 2010
Aim: We aimed to define reference ranges for right ventricular (RV) volumes, ejection fraction (EF) in thalassemia major patients (TM) without myocardial iron overload.Methods and results: RV volumes, EF and mass were measured in 80 TM patients who had ...
Maciej Garbowski, He, TG, Maceira, A, Francisco Alpendurada, Banya Winston, He, T, Taigang He, Carpenter, JP, Smith, GC, Kirk, P, Shah, F, Maceira Alicia, Porter, JB, John B Porter, Banya, W, He Taigang, Walker, JM, Kirk Paul, Alicia Maceira, Alpendurada Francisco, Gillian C Smith, Porter John B, Smith Gillian C, Farrukh Shah, Pennell, DJ, Shah Farrukh, Pennell Dudley J, Deac Monica, Dudley J Pennell, Alpendurada, F, Paul Kirk, Winston Banya, Carpenter John-Paul, John-Paul Carpenter, Deac, M, J Malcolm Walker, Garbowski, M, Walker J Malcolm, Garbowski Maciej, Monica Deac   +39 more
core   +1 more source

Therapeutic Silencing of Tmprss6 Reduces Iron‐Induced Inflammation and Prolongs Survival in MDS Mice

American Journal of Hematology, EarlyView.
ABSTRACT Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). Despite advances in supportive and targeted therapies, disease‐modifying interventions remain limited.
Shahla Vilcassim, Nuttanan Pholngam, Rattanawan Thubthed, Tiwaporn Nualkaew, Saovaros Svasti, Pornthip Chaichompoo, Kai Kysenius, Peter J. Crouch, Sibylle Dames, Mona Eisermann, Alberto Martinez, Ute Schaeper, Jim Vadolas, George Grigoriadis   +13 more
wiley   +1 more source

Variable Clinical Phenotypes of α-Thalassemia Syndromes [PDF]

, 2009
Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis.
Sylvia Titi Singer
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Cellular and biochemical heterogeneity contributes to the phenotypic diversity of transfusion-dependent β-thalassemia

Blood Advances
Abstract Transfusion-dependent thalassemia (TDT) is a type of protein aggregation disease. Its clinical heterogeneity imposes challenges in effective management. Red blood cell (RBC) variables may be clinically relevant as mechanistic parts or tellers of TDT pathophysiology.
Konstantina Theocharaki, Alkmini T. Anastasiadi, Sophia Delicou, Vassilis L. Tzounakas, Ioanna Barla, Stella Rouvela, Evgenia Kazolia, Georgia Tzafa, George Mpekoulis, Theodore Gousdovas, Efthymia Pavlou, Ioannis V. Kostopoulos, Athanassios D. Velentzas, Nikolaos Simantiris, Aikaterini Xydaki, Niki Vassilaki, Ersi Voskaridou, Ioanna-Katerina Aggeli, Efrosyni Nomikou, Ourania Tsitsilonis, Efstathia Papageorgiou, Nikolaos Thomaidis, Evangelos Gikas, Marianna Politou, Veroniki Komninaka, Marianna H. Antonelou   +25 more
openaire   +3 more sources

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