Results 41 to 50 of about 405 (131)

IMPROVEMENTS IN FATIGUE AND 6-MINUTE WALK TEST IN ADULTS WITH ALPHA- OR BETA-NON–TRANSFUSION-DEPENDENT THALASSEMIA: THE PHASE 3 ENERGIZE TRIAL OF MITAPIVAT

Hematology, Transfusion and Cell Therapy
Background: Thalassemia, a group of inherited disorders characterized by ineffective erythropoiesis and chronic hemolytic anemia, is associated with wide-ranging impacts on health-related quality of life (HRQoL), such as impaired physical functioning and
KH Kuo, H Al-Samkari, Y Aydinok, M Besser, S Gheuens, G Luna, A Glenthj, AS Goh, A Kattamis, SR Loggetto, KM Musallam, P Ricchi, E Salido-Fiérrez, S Sheth, V Viprakasit, MD Cappellini, AT Taher   +16 more
doaj   +1 more source

Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial

Journal of Patient-Reported Outcomes, 2023
Background Pyruvate kinase (PK) deficiency is a rare hereditary disorder characterized by chronic hemolytic anemia and serious sequalae which negatively affect patient quality of life.
David A. Andrae, Rachael F. Grace, Adrian Jewett, Brandon Foster, Robert J. Klaassen, Sam Salek, Junlong Li, Feng Tai, Audra N. Boscoe, Erin Zagadailov   +9 more
doaj   +1 more source

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, Volume 40, Issue 10, May 2026.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

In‐depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis

British Journal of Haematology, Volume 208, Issue 5, Page 1785-1796, May 2026.
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
Jonathan R. A. de Wilde, Geoffrey Z. L. Kuppens, Maryse E. Boesveld, Annelies J. van Vuren, Wouter W. van Solinge, Esmé Waanders, Eduard J. van Beers, Minke A. E. Rab, Marije Bartels, Richard van Wijk   +9 more
wiley   +1 more source

Mitapivat Improves Transfusion Burden and Reduces Iron Overload in Thalassemic Mice

Blood, 2021
Abstract Mitapivat, an oral activator of pyruvate kinase (PK), was recently shown to improve b-thalassemic anemia with a reduction of ineffective erythropoiesis and an amelioration of b-thalassemic red cell features in a mouse model for b-thalassemia (Hbb 3th/+ mice).).
Alessandro Mattè, Penelope A. Kosinski, Enrica Federti, Lenny Dang, Angela Siciliano, Iana Iatcenko, Carlo Brugnara, Lucia De Franceschi   +7 more
openaire   +1 more source

REVISÃO BIBLIOGRÁFICA DA EFICÁCIA DO MITAPIVAT NO TRATAMENTO DE ANEMIA HEMOLÍTICA, ANEMIA FALCIFORME E TALASSEMIA

Hematology, Transfusion and Cell Therapy
Objetivos: Investigar a eficácia terapêutica do Mitapivat, um fármaco ativador de primeira classe da enzima piruvato quinase (EPQ), que tem sido pesquisado como opção inovadora no tratamento de anemia hemolítica, doença falciforme e talassemia.
GN Lopes, LGF Souza, JVDS Bianchi
doaj   +1 more source

Circulating angiogenesis‐related biomarkers in sickle cell retinopathy and maculopathy

British Journal of Haematology, Volume 208, Issue 4, Page 1398-1406, April 2026.
Summary Sickle cell disease (SCD), encompassing genotypes such as HbSS and HbSC, leads to retinal complications such as sickle cell retinopathy (SCR) and maculopathy (SCM) through poorly understood mechanisms. This study explored associations of a panel of circulating angiogenesis‐related factors with SCR and SCM.
Rajani P. Brandsen, Ingeborg Klaassen, Renée de Caluwe, Erfan Nur, Bart J. Biemond, Roselie M. H. Diederen, Reinier O. Schlingemann   +6 more
wiley   +1 more source

MeMAGEN: A Phase IIa/IIb open‐label trial of memantine testing safety and tolerability in sickle cell patients

HemaSphere, Volume 10, Issue 1, January 2026.
ABSTRACT Administration of memantine, an antagonist of the N‐methyl‐ d‐aspartate receptor, prevents Ca2+ overload and dehydration of red blood cells (RBCs) in patients with sickle cell disease (SCD). The objectives of the 1‐year dose‐escalation Phase IIa/IIb Memantine trial (MeMAGEN – NCT 03247218) with 17 SCD patients who were under stable ...
Ariel Koren, Carina Levin, Leonid Livshits, Fabio Valeri, Sari Peretz, Sivan Raz, Anna Yu Bogdanova, Max Gassmann   +7 more
wiley   +1 more source

Untreated Thalassemia Associated With Facial and Dental Changes in Adulthood

eJHaem, Volume 7, Issue 4, August 2026.
Miranda Lin, Ivana Ho, Richard C. Godby
wiley   +1 more source

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency

Frontiers in Immunology
Pyruvate kinase deficiency (PKD) is an autosomal recessive genetic disease caused by mutations in the PKLR gene. To date, the clinical manifestations of PKD are heterogeneous, ranging from fetal anemia, neonatal jaundice, and severe chronic hemolytic ...
Yuhui Pang, Xiaoyu Qi, Jiayue Qin, Xiaoran Zhai, Rongxiao Wang, Jianzhu Cao, Na Zhang, Jinxia Liu, Jianying Li, Weihai Wu, Shanshan Wei, Jingjing Zhang, Shaofei Zhang, Yaochen Zhang, Yan Yue   +14 more
doaj   +1 more source