Results 81 to 90 of about 22,512 (233)

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers [PDF]

, 2005
Thalassaemia is an inherited blood disorder in which there is a reduction or absence in the synthesis of the globin chains of human Hb. Thalassaemia remains a public health problem in Malaysia, with many not knowing they carry the gene for ...
Chong, Yi Min
core   +1 more source

Identification of predictive factors for reversal of cerebral vasculopathy in an original longitudinal cohort study in newborns with sickle cell anaemia

British Journal of Haematology, EarlyView.
Summary Cerebral macrovasculopathy (CV) is a major complication in children with sickle cell anaemia (SCA) and usually requires a long‐term transfusion programme (TP) to prevent stroke. This study aimed to identify factors predicting reversal of CV on TP in a single‐centre newborn cohort. Among 375 patients, 50 presented CV and received TP.
Julie Sommet, Priscilla Boizeau, Zinedine Haouari, Berengère Koehl, Monique Elmaleh, Emmanuelle Lesprit, Florence Missud, Ghislaine Ithier, Laurent Holvoet, Valentine Brousse, Christophe Delclaux, André Denjean, Suzanne Verlhac, Corinne Alberti, André Baruchel, Nathalie Couque, Malika Benkerrou   +16 more
wiley   +1 more source

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies

HemaSphere, 2023
Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Stella Tamana, Marina Kleanthous, Petros Kountouris   +5 more
doaj   +1 more source

Cognitive impairment and hippocampal neuronal damage in β-thalassaemia mice

Scientific Reports
β-Thalassaemia is one of the most common genetic diseases worldwide. During the past few decades, life expectancy of patients has increased significantly owing to advance in medical treatments. Cognitive impairment, once has been neglected, has gradually
Nuttanan Pholngam, Parinda Jamrus, Kittikun Viwatpinyo, Benjaporn Kiatpakdee, Jim Vadolas, Pornthip Chaichompoo, Sukonthar Ngampramuan, Saovaros Svasti   +7 more
doaj   +1 more source

Hepatic and renal functions of paediatric patients with thalassaemia: a cross-sectional study from two large thalassaemia centres in Sri Lanka

BMJ Open
Objectives Thalassaemia is a genetic disorder of haemoglobin synthesis characterised by life-long chronic anaemia. Although the endocrine and cardiac complications of thalassaemia are well-studied, hepatic and renal complications are understudied.
Meranthi Fernando, Anuja Premawardhena, Sachith Mettananda, Hashan Pathiraja, Wasana Wijenayake, Raveen Thennakoon, Dayananda Bandara, Roshitha De Silva   +7 more
doaj   +1 more source

Thalassaemia

, 2017
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and Î2-thalassaemia, including the co-inheritance of Î2-thalassaemia with ...
Ali T Taher, Maria Domenica Cappellini, M.D. Cappellini, David J Weatherall, A. T. Taher, D. J. Weatherall   +5 more
core   +1 more source

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity

British Journal of Haematology, EarlyView.
Summary In patients with sickle cell disease (SCD), parvovirus B19 infection (B19V) leads to acute anaemia (aplastic crisis), but may also be associated with other serious complications. We retrospectively analysed clinical data from paediatric SCD patients with B19V infections between 2023 and 2025, including symptoms, laboratory parameters ...
Matthias Bleeke, Arne Simon, Beate Winkler, Sabine Heine, Anna Eichinger, Ulrich von Both, Meinolf Siepermann, Sonya El Amouri, Arndt Borkhardt, Yvonne Pritschow, Wolfgang Novak, Michael Dworzak, Sarah Goretzki, Clara Held, Karin Beutel, Franziska Gams, Henriette Rudolph, Leila Koscher, Piet E. Beusker, Eckard Hamelmann, Stefan Weichert, Svenja Häuser, Maximilian Mauritz, Malik Aydin, Verena Wiegering, Regine Grosse, Rainer Misgeld, Martina Stiefel, Nicole Töpfner, Uta Falke, Lara Imhof, Laura Tagliaferri, Daniel Ebrahimi‐Fakhari, Andreas Groll, Marion Appel, Nora Naumann‐Bartsch, Michaela Nathrath, Olaf Beck, Solvej Heidtmann, Philipp Tischer, Ulf Schulze‐Sturm, Urs Mücke, Holger Cario   +42 more
wiley   +1 more source

Carrying a crisis: The risk of a painful sickle cell crisis during pregnancy

British Journal of Haematology, EarlyView.
Commentary on: Auger et al. Sickle cell anaemia with and without crises: An observational study of pregnancy outcomes. Br J Haematol 2026 (Online ahead of print). doi: 10.1111/bjh.70837.
Bart J. Biemond
wiley   +1 more source

An investigation of the protective effect of alpha+-thalassaemia against severe Plasmodium falciparum amongst children in Kumasi, Ghana [PDF]

, 2012
Background: The alpha+-thalassaemias are the most common monogenic disorders of humans, characterised by microcytic and hypochromic anaemia. heir high frequency reflects selective advantage against death from Plasmodium falciparum malaria.
Opoku-Okrah, C.
core   +1 more source