Results 91 to 100 of about 11,317 (250)

A novel haemoglobin variant mimicking cyanotic congenital heart disease [PDF]

, 2016
Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive ...
Abecasis, F, Bento, C, Ferrão, A, Marques, I   +3 more
core   +2 more sources

Metabolic stimulation improves bioenergetics and haematologic indices of circulating erythrocytes from sickle cell mice

The Journal of Physiology, EarlyView.
Abstract figure legend Metabolic stimulation improves bioenergetics, redox state, hydration and hematologic indices of circulating erythrocytes from sickle cell mice. Retained mitochondria in circulating RBCs from sickle mice are a source of RBC ATP as mitochondria function (ETC, electron transport chain) inhibitors [rotenone, a mitochondrial complex I
Luis E. F. Almeida, Meghann L. Smith, Sayuri Kamimura, Sebastian Vogel, Zenaide M. N. Quezado   +4 more
wiley   +1 more source

Epidemiological and Clinical Profile of Hemoglobinopathies and Thalassemia in Duhok, Kurdistan Region of Iraq: A Retrospective Study

Thalassemia Reports
Background/Objectives: Thalassemia is among the most common hereditary disorders globally, characterized by impaired hemoglobin synthesis and ineffective erythropoiesis.
Burhan Abdullah Zaman, Zuhair Rushdi Mustafa, Delshad Abdulah Mohamed, Hasan Abdullah Aswad, Deldar Morad Abdulah   +4 more
doaj   +1 more source

جداسازی زنجيره‌های گلوبين به روش کروماتوگرافی تعويض يونی در تشخيص هموگلوبينوپاتی‌ها [PDF]

, 2008
زمينه و هدف: هموگلوبينوپاتی‌ها در اثر نقص در ژن سنتز کننده زنجيره‌های هموگلوبين بوجود می‌آيند. در مواقعی که موتاسيون در ژن زنجيره‌های آلفا يا بتا بصورتی باشد که تغيير بار الکتريکی هموگلوبين محسوس نباشد، برای تفکيک می‌توان از کروماتوگرافی تعويض يونی بهره ...
حسينی گوهری, لادن, شمسيان, بی بی شهین, مستعان, لیلا, معينی عليشاه, فاطمه   +3 more
core  

Real‐world evidence supports the safety and efficacy profile of luspatercept in clinically complex and heavily iron‐overloaded patients

British Journal of Haematology, EarlyView.
Barbara Gianesin, Antonietta Zappu, Giovanni Battista Ferrero, Carmen Maria Gaglioti, Michele Santodirocco, Giuseppe Fania, Giovanna Graziadei, Daniele Lello Panzieri, Antonella Massa, Tommaso Mina, Francesca Polese, Angelantonio Vitucci, Francesco Arcioni, Maria Caterina Putti, Valerio Cecinati, Ilaria Fotzi, Paola Maria Grazia Sanna, Antonio Cappello, Filomena Longo, Roberto Lisi, Annamaria Pasanisi, Daniela Pietrasanta, Monica Bocchia, Elisa Bertoni, Antonella Cossu, Marilena Serra, Susanna Barella, Antonia Gigante, Gian Luca Forni, Raffaella Origa   +29 more
wiley   +1 more source

Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease

American Journal of Hematology, Volume 101, Issue 4, Page 718-727, April 2026.
ABSTRACT Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown.
Lydian A. de Ligt, Sanjay R. Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W. Kuijpers, Bart J. Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur   +9 more
wiley   +1 more source

Expression of Regulatory Platelet MicroRNAs in Patients with Sickle Cell Disease [PDF]

, 2013
Background: Increased platelet activation in sickle cell disease (SCD) contributes to a state of hypercoagulability and confers a risk of thromboembolic complications.
A Abdollahi, A Dixon-McIver, A Osman, A Schedel, A Smolenski, A Tomer, AA Kondkar, AD Blann, AI Badeaux, AJ Saldanha, AM Healy, BM Steele, Claudia Coronnello, D Betel, D Betel, DA Hosack, DP Bartel, DV Gnatenko, EM Novelli, ER Popescu, G Bazzoni, Gregory J. Kato, Guoying Yu, H Bruchova, H Seitz, HA Brittain, I Hers, I Toma, J Villagra, Jen-Tsan Ashley Chi, JF Noronha, JS Mohan, K Joop, K Kaushansky, K Konishi, Kimberly Woodhouse, LL Horstman, LR Queen, M Kannan, M Kertesz, Maria G. Kapetanaki, Mark T. Gladwin, MC Ammons, ML Freedman, ML Jison, MP Hunter, N Chavda, N Raghavachari, Naftali Kaminski, Nalini Raghavachari, P Landry, Panayiotis V. Benos, PV Browne, R Antonucci, R Garzon, R Ross, R Visone, RC Friedman, RJ Berckmans, RL Nachman, RT Schermuly, S Amisten, S Kim, S Masaki, S Mendjan, S Nagalla, Shilpa Jain, SP Lee, Suchitra Barge, T Wun, V Ambros, W Huang da   +71 more
core   +3 more sources

Genetics and Genomics in Sickle Cell Disease in Africa

American Journal of Hematology, Volume 101, Issue S1, Page 47-55, April 2026.
ABSTRACT Advanced genomic technologies are revolutionizing our ability to understand complex diseases. Large‐scale population studies are needed to realize the potential of using individual genetic information to personalize treatments for better patient outcomes for chronic non‐communicable diseases, such as sickle cell disease (SCD).
Siana Nkya, Julie Makani, Jonathan M. Flanagan   +2 more
wiley   +1 more source

Análise do polimorfismo TA6/TA7 na região promotora do gene UGT1A1, em pacientes com anemia e traço falciforme de dois hospitais da cidade de Porto Alegre – RS [PDF]

, 2011
A doença de células falciformes é uma anemia hemolítica crônica de caráter autossômico recessivo, causada por uma mutação pontual no cromossomo 11. Esta mutação provoca a substituição de um ácido glutâmico por uma valina na posição seis da cadeia da ...
Antunes, Liana
core  

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 971-977, April 2026.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source