Results 101 to 110 of about 20,917 (253)

Spectrum of hemoglobin variants in the population of northern region of West Bengal: An ethnogenetic proposition

Journal of Family Medicine and Primary Care, 2014
Context: The birth of transfusion-dependent states of hemoglobinopathies including thalassemias is preventable by population screening and genetic counseling.
Bidyut Krishna Goswami, Raghunath Pramanik, Sudipta Chakrabarty, Partha Pratim Pal, Sarama Banerjee, Arghya Bandyopadhyay   +5 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
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

PB1897: DISCONTINUATION OF IMATINIB IN PATIENTS FOLLOWED FOR CHRONIC MYELOID LEUKEMIA IN DEEP MOLECULAR RESPONSE

HemaSphere, 2022
Y. Bouchakor Moussa, S. Taoussi, S. Oukid, F. Lamraoui, N. Rekab, K. M. Benlabiod, H. Brahimi, M. T. Abad, M. Bradai   +8 more
doaj   +1 more source

Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography

Journal of Pathology of Nepal, 2015
Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
doaj   +1 more source

Improvement of Sickle Cell Disease Care Mitigates the Healthcare Utilization Induced by Increased Prevalence: Experience of a Tertiary Pediatric Center

Pediatric Blood &Cancer, Volume 73, Issue 10, October 2026.
ABSTRACT Background Sickle cell disease (SCD) has undergone major changes in the last decades. Its prevalence has been steadily increasing and numerous advances have been made in the management of the disease. However, the effect in real‐life setting of these major changes is unknown, particularly in a Canadian environment. Procedure We aimed to assess
Maude Cigna, Alexia Muresan, Estelle Lecluze, Karine Leduc, Nathalie Fournier, Maria Tamer, Jean‐François Delisle, Jeremi Charbonneau, Annie Viau, Jessica Darilus, Marie‐Joëlle Doré‐Bergeron, Valérie Arsenault, Evelyne Doyon‐Trottier, Stéphanie Forte, Nancy Robitaille, Yves Pastore, Thomas Pincez   +16 more
wiley   +1 more source

Prevalence of hemoglobinopathies using high-performance liquid chromatography as diagnostic tool in anemic patients of tertiary care center of Western India

Asian Journal of Transfusion Science
CONTEXT: Hemoglobinopathies are the most common heterogeneous group of monogenetic disorder in the world and its prevalence varies with geographical regions.
Virender Singh, Amit Kumar Biswas, Ajay Kumar Baranwal, Bhushan Asthana, Tejpal Dahiya   +4 more
doaj   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, Volume 20, Issue 10, Page 2533-2566, October 2026.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Assessment of Thyroid Hormones and Vitamin D Levels in Patients with Hereditary Hemoglobinopathies

مجلة علوم ذي قار, 2023
Background: Hemoglobinopathies are ultimately developed many complications with a high of morbidity, secondary to iron overload. Thyroid dysfunction and bone disorders are the most common clinical manifestations.
Ghfran A. Kadim, Shrouk A. Hassan Al. Ibraheem   +1 more
doaj  

Nontyphoidal Salmonella Osteomyelitis in Immunocompetent Children Without Hemoglobinopathies

, 2017
Salmonella osteomyelitis is well-described in children with hemoglobinopathies, particularly infection with Salmonella typhi. To characterize nontyphoidal osteomyelitis in otherwise healthy children without hemoglobinopathies, we performed a ...
Jonathan D. Eldredge, David F. Pavlik, Muller, Martha L, Pavlik, David F, Eickman, Megan M, Walter Dehority, Jennifer J. Johnston, Megan M. Eickman, Dehority, Walter N, Eldredge, Jonathan, Gill, Alicia N, Johnston, Jennifer J, Alicia N. Gill, Martha L. Muller   +13 more
core   +1 more source

Epigenetics in cancer: from mechanisms to precision medicine

Molecular Oncology, Volume 20, Issue 10, Page 2389-2392, October 2026.
Reversible epigenetic programs, including DNA methylation, chromatin modifications, and chromatin architecture, shape dynamic tumor states. Spatial and single‐cell profiling identify tumor plasticity, evolution, and immune evasion, enabling biomarker‐guided precision medicine and rational epigenetic combinations to expose therapeutic vulnerabilities ...
Sung Hee Baek
wiley   +1 more source