Results 41 to 50 of about 872,130 (197)

A MALDI-TOF mass spectrometry-based haemoglobin chain quantification method for rapid screen of thalassaemia

Annals of Medicine, 2022
Background Thalassaemia is one of the most common inherited monogenic diseases worldwide with a heavy global health burden. Considering its high prevalence in low and middle-income countries, a cheap, accurate and high-throughput screening test of ...
Jian Zhang, Zhizhong Liu, Ribing Chen, Qingwei Ma, Qian Lyu, Shuhui Fu, Yufei He, Zijie Xiao, Zhi Luo, Jianming Luo, Xingyu Wang, Xiangyi Liu, Peng An, Wei Sun   +13 more
doaj   +1 more source

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

Molecular Oncology, EarlyView.
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

HOPE Kids 2: Phase 3, Randomized Trial of Voxelotor in Children With SCD and Conditional Cerebral Blood Flow Velocities

American Journal of Hematology, EarlyView.
ABSTRACT Children with SCD have elevated stroke risk, correlated with cerebral blood flow velocity (CBFV). HOPE Kids 2 was a phase 3, multicenter, double‐blind, placebo‐controlled trial evaluating the effect of voxelotor on CBFV. Participants aged 2 to < 15 years with SCD (HbSS/HbSβ0) and conditional CBFV (170 to < 200 cm/s) were randomized 1:1 to ...
Halima Bello‐Manga, Shehu Umar Abdullahi, Hoda Hassab, Biobele Brown, Videlis Nduba, Jessie Githanga, Adeseye Michael Akinsete, Amal El‐Beshlawy, Diana Hanna, Catherine Segbefia, Iheanyi Okpala, Azza Tantawy, Bernhards Ogutu, Venée N. Tubman, Vivian Paintsil, Yasser Wali, Mohammed Essa, Paul Telfer, Sandy Dixon, Anne Hickman, Jennifer F. Doss, Mark W. Davis, Jeremy Rupon, Fenella J. Kirkham, R. Clark Brown, on behalf of the HOPE Kids 2 Investigators, Amal El‐Beshlawy, Mohamed Badr, Diana Hanna*, Hoda Hassab, Azza Tantawy, Vivian Paintsil, Catherine Segbefia, Raffaella Colombatti, Daniela Cuzzubbo, Silverio Perrotta, Jessie Githanga, Videlis Nduba, Bernhards Ogutu, Shehu Umar Abdullahi, Adeseye Michael Akinsete, Halima Bello‐Manga, Biobele Brown, Iheanyi Okpala, Yasser Wali, Mohammed Essa, Banu Kaya, Paul Telfer, Ofelia Alvarez, Natasha Archer, Shayla Bergmann, R Clark Brown, Andrew Campbell, Carlton Dampier*, Richard Hurwitz, Erin Jackson, Janet Kwiatkowski, Melissa M. McNaull*, Venée N. Tubman   +58 more
wiley   +1 more source

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

HbA2 levels in β-thalassaemia carriers with the Filipino β0-deletion: are the levels higher than what is found with non-deletional forms of β0-thalassaemia? [PDF]

, 2013
AIMS: Classical carriers of β-thalassaemia are identified by a raised HbA2 level. Earlier studies indicated that the Filipino β-deletion has high raised HbA2 levels.
Tan, Mary Anne Jin Ai, George, Elizabeth, Lai, Mei I., Teh, Lai Kuan, Wong, Lily   +4 more
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

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

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

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

Study of Mutations in β-Thalassemia Trait among Blood Donors in Eastern Uttar Pradesh [PDF]

Journal of Clinical and Diagnostic Research, 2013
Background: Knowledge on distribution of different mutations of thalassaemia, which are prevalent in a particular area, is a prerequisite for prenatal diagnosis.
L P Meena, K Kumar, V K Singh, Anju Bharti, S K H Rahman, K Tripathi   +5 more
doaj   +1 more source