Results 71 to 80 of about 4,160 (239)

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

Prenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou, Leila Sallie, Morgan Jean Bell‐Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris   +7 more
wiley   +1 more source

Diagnosis of {alpha}+-thalassemias by determining the ratio of the two {alpha}-globin gene copies by oligonucleotide hybridization and melting curve analysis

, 2005
Most cases of {alpha}-thalassemia result from large deletions at the {alpha}-globin locus (1). The {alpha}-globin gene cluster contains a tandem array of 2 nearly identical {alpha}-globin genes (HBA; Fig. 1A ) (2).
J Evans (7845878), E Tannich (13750516), J Sievertsen (13750519), Silvia Haase (13050579), C Timmann (13750507), B Foerster (13750513), F Moenkemeyer (13750510), E Kohne (13750522), R Horstmann (13750525)   +8 more
core  

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

Prenatal diagnosis of alpha and beta thalassemias and hemophilia A: Experience in Hong Kong

, 1990
Methods and strategies are described for the prenatal diagnosis of three common congenital disorders - alpha and beta thalassemias and hemophilia A.
Chan, V, Vivian Chan
core   +1 more source

Clinical Complications and Their Management [PDF]

, 2018
The hallmarks of thalassemias are ineffective erythropoiesis and peripheral hemolysis leading to a cascade of events responsible for several clinical complications.
Marcon, Alessia, Alessia Marcon, Cappellini, Maria Teresa, Maria Domenica Cappellini, I. Motta, A. Marcon, Ali T. Taher, Taher, Ali T., Motta, Irene, M. D. Cappellini, Irene Motta, A. T. Taher   +11 more
core   +1 more source

Off‐Label use of a lumen‐apposing metal stent for refractory pyloric stricture in a toddler

JPGN Reports, EarlyView.
Hamza Hassan Khan, Prateek Wali, Sumant Inamdar   +2 more
wiley   +1 more source

Increase in fetal haemoglobin from baseline to day 10 is a biomarker for response to decitabine in AML: Results of the AML21 randomized phase III trial of the EORTC Leukemia Group, Gruppo Italiano Malattie Ematologiche dell'Adulto (GIMEMA) and German MDS Study Group

British Journal of Haematology, EarlyView.
Summary Lack of response or delayed response to therapy are major challenges in the use of DNA‐hypomethylating agents (HMA) in patients with acute myeloid leukaemia (AML). Fetal haemoglobin (HbF) is a potential biomarker for response to HMA treatment but has only been studied in small single‐centre studies.
Julia Stomper, Michal Kicinski, Tobias Ma, Thomas Meyer, Sylvain Chantepie, Richard Noppeney, Mario Luppi, Ernesta Audisio, Laimonas Griškevičius, Andreas Neubauer, Robin Foà, Walter J. F. M. Van der Velden, Anna Candoni, Radovan Vrhovac, Gianluca Gaidano, Catharina Van Elssen, Mels Hoogendoorn, Maurizio Musso, Attilio Olivieri, Christian Junghanß, Emmanuel Bissé, Stephanie Antunes, Frédéric Baron, Adriano Venditti, Joop H. Jansen, Pierre W. Wijermans, Gerwin Huls, Michael Lübbert   +27 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Thalassemia and hypercoagulability

Hematology
Abstract Although the management of β-thalassemia has improved significantly, patients still suffer from many complications, including thrombotic events. A hypercoagulable state has been demonstrated in these conditions, particularly in non–transfusion-dependent β-thalassemia, because of disease-specific contributors that play a role ...
Cappellini M. D., Taher A. T., Motta I.
openaire   +2 more sources

Globin gene regulation for treating β-thalassemias: Progress, obstacles and future [PDF]

, 2015
Introduction: β-thalassemias result from mutations in the β-globin gene, leading to a reduced or absent production of β-globin chains. The treatment of β-thalassemias has been historically based on blood transfusions and iron chelation therapy.
Alameddine, Raafat S., Saliba, Antoine N., Taher, Ali T., Harb, Afif R.   +3 more
core   +1 more source