Results 41 to 50 of about 22,512 (233)

The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco, Ivan Lerner, Auria Godard, Luc Darnige, Laure Joseph, Wassim El Nemer, Geoffrey Cheminet, Jean‐Benoit Arlet   +7 more
wiley   +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

A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand

Scientific Reports, 2017
Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30–40%) being seen in northern Thailand.
Mattapong Kulaphisit, Jatupol Kampuansai, Kamonlak Leecharoenkiat, Methi Wathikthinnakon, Daoroong Kangwanpong, Thongperm Munkongdee, Saovaros Svasti, Suthat Fucharoen, Duncan R. Smith, Pathrapol Lithanatudom   +9 more
doaj   +1 more source

Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBB^AS3 Gene Addition and Mutation-Specific RNA Interference

Cells, 2023
Therapy via the gene addition of the anti-sickling βAS3-globin transgene is potentially curative for all β-hemoglobinopathies and therefore of particular clinical and commercial interest.
Lola Koniali, Christina Flouri, Markela I. Kostopoulou, Nikoletta Y. Papaioannou, Panayiota L. Papasavva, Basma Naiisseh, Coralea Stephanou, Anthi Demetriadou, Maria Sitarou, Soteroula Christou, Michael N. Antoniou, Marina Kleanthous, Petros Patsali, Carsten W. Lederer   +13 more
doaj   +1 more source

Cell and Gene Therapies Manufacturing Challenges and Integrated Good Manufacturing Practices Solutions: A Lifecycle Perspective

Biotechnology and Bioengineering, EarlyView.
Lifecycle perspective on cell and gene therapy manufacturing challenges and enabling GMP solutions. ABSTRACT Cell and gene therapies (CGTs) are revolutionizing modern medicine; however, making these advanced medicines scalable and readily available to commercial manufacturers worldwide is a major challenge. The number of approved CGT products continues
Rajath Samaga, Udisha Singh, Sachin Dattram Pawar   +2 more
wiley   +1 more source

Impact of COVID-19 pandemic on rare diseases - A case study on thalassaemia patients in Bangladesh

Public Health in Practice, 2021
Objectives: Thalassaemia is a life-threatening rare disease, which requires regular blood transfusion and medical care. The information on how thalassaemia patients are affected during the unprecedented COVID-19 crisis is scarce.
Mohammad Sorowar Hossain, Farhana Runa, Abdullah Al Mosabbir   +2 more
doaj   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Haemoglobinopathies and β-Thalassaemia among the Tribals Working in the Tea Gardens of Assam, India [PDF]

Journal of Clinical and Diagnostic Research, 2016
Introduction: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less.
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia   +2 more
doaj   +1 more source

Development and Validation of a Nomogram Based on Red Blood Cell and Reticulocyte Parameters for Differentiating Thalassemia Trait From Iron Deficiency Anemia

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia trait (TT) and iron deficiency anemia (IDA) are the primary causes of microcytic hypochromic anemia with overlapping hematological features, making their differential diagnosis challenging, so this study developed and validated a nomogram integrating red blood cell (RBC) count, mean corpuscular volume (MCV), reticulocyte percentage (RET ...
Yong Chen, Yazhen Mao, Jie Liu, Yice Lin, Dandan Chen   +4 more
wiley   +1 more source

Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α3.7I form of α-thalassaemia using genome-wide microarray data [version 2; peer review: 2 approved]

Wellcome Open Research, 2021
Background: The -α3.7I-thalassaemia deletion is very common throughout Africa because it protects against malaria. When undertaking studies to investigate human genetic adaptations to malaria or other diseases, it is important to account for any ...
Carolyne M. Ndila, Vysaul Nyirongo, Alexander W. Macharia, Anna E. Jeffreys, Kate Rowlands, Christina Hubbart, George B. J. Busby, Gavin Band, Rosalind M. Harding, Kirk A. Rockett, Thomas N. Williams, MalariaGEN Consortium   +11 more
doaj   +1 more source