Results 31 to 40 of about 2,781 (251)

β-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

Haematologica, 2015
β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the β-globin gene or its regulatory elements have been associated with β ...
Stefano Rivella
doaj   +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

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

Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: High performance liquid chromatography studies in 9000 patients

Indian Journal of Pathology and Microbiology, 2014
Background: The hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Data pertaining to the pattern of hemoglobinopathies and thalassemias is scarce in North East India, and hence it was considered ...
Mrinal Kumar Baruah, Malavika Saikia, Aditi Baruah   +2 more
doaj   +1 more source

CONCISE REVIEW ON THE FREQUENCY, MAJOR RISK FACTORS AND SURVEILLANCE OF HEPATOCELLULAR CARCINOMA (HCC) IN Β-THALASSEMIAS: PAST, PRESENT AND FUTURE PERSPECTIVES

Mediterranean Journal of Hematology and Infectious Diseases, 2020
Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias.
Vincenzo De Sanctis
doaj   +1 more source

Correction of Ineffective Erythropoiesis and Normalization of Iron Homeostasis After Exagamglogene Autotemcel in Transfusion‐Dependent β‐Thalassemia

American Journal of Hematology, EarlyView.
ABSTRACT Exagamglogene autotemcel (exa‐cel) is a one‐time, ex vivo, CRISPR‐Cas9 gene edited cell therapy approved for patients with transfusion dependent β‐thalassemia (TDT) aged 12–35 years. In a Phase 3 study (CLIMB THAL‐111), exa‐cel treatment resulted in reactivation of fetal hemoglobin and increases in total hemoglobin, leading to transfusion ...
Sujit Sheth, Selim Corbacioglu, Josu de la Fuente, Mattia Algeri, Joachim Rupprecht, Kevin H. M. Kuo, Ami J. Shah, Peter Lang, Hayley Merkeley, Ben Carpenter, Markus Y. Mapara, Robert I. Liem, Stephan Grupp, Yogi Chopra, Amanda M. Li, Janet L. Kwiatkowski, Melanie Kirby‐Allen, Maria Domenica Cappellini, Antonis Kattamis, Sakellarios Zairis, Tina Liu, William Hobbs, Haydar Frangoul, Franco Locatelli, Roland Meisel, on behalf of the CLIMB THAL‐111 and CLIMB‐131 Study Groups   +25 more
wiley   +1 more source

Thalassemia: An overview

Journal of the Scientific Society, 2014
This article provides an insight towards diagnosing and managing thalassemias. It begins by describing the structure of normal hemoglobin and elaborates on our understanding of the pathophysiology of thalassemia.
Ramesh Aggarwal, Anupam Prakash, Meenakshi Aggarwal   +2 more
doaj   +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

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

Mediterranean Journal of Hematology and Infectious Diseases, 2009
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Luisella Saba, Maria Cristina Rosatelli
doaj   +3 more sources

Control of thalassemia in India

Thalassemia Reports, 2014
The β-thalassemias and sickle cell disorders pose a major health burden in the large and diverse Indian population. Education programs for awareness generation are being done by National Institutions, non-governmental organizations and Thalassemia ...
Roshan B. Colah, Ajit Gorakshakar
doaj   +1 more source