Results 61 to 70 of about 872,130 (197)
Prenatal Diagnosis, EarlyView.ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde +4 more
wiley +1 more source
Efficiency and management factors: finding the balance in Thalassaemia care centres
Health Economics Review, 2022 Background Optimizing efficiency has become increasingly critical with the growing demand for finite healthcare resources driven by population growth and an ageing society.
Asrul Akmal Shafie +5 more
doaj +1 more source
Guidelines for the Management of Non Transfusion Dependent thalassaemia (NTDT)
, 2021 AUB Faculty Publication.One of the main strategies of the Thalassaemia International Federation (TIF) has been the development of standards and guidelines for the clinical management of patients with thalassaemia. In this effort, TIF published Guidelines
Vichinsky, Elliott P. +2 more
core
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
The triplicated α gene locus and β thalassaemia
, 1983 Summary. In five families, the coinheritance of β thalassaemia and an additional α gene (ααα/αα) has been observed. Among the β thalassaemia heterozygotes, no phenotypic effect of the triplicated α gene was detected clinically or at the haematological ...
Kattamis, C. +4 more
core +1 more source
Prevalence of dentofacial abnormalities in children and adolescents with β-thalassaemia major
Indian Journal of Dental Research, 2013 Background: β-thalassaemia major is a hereditary hemolytic anemia and the patients often experience growth retardation, protrusive maxilla, and depressed nasal bride leading to various degrees of malocclusion.
Arun Elangovan +3 more
doaj +1 more source
Genetic epidemiology and functional studies of β-thalassaemia in Kilifi, Kenya [PDF]
It is generally believed that β-thalassaemia is rare in sub-Saharan Africa; however, in studies conducted in Kilifi, we recently observed HbA2 levels within the diagnostic range for β-thalassaemia (≥4%) in multiple children and identified two β ...
Macharia, Alexander Waiganjo
core +1 more source
The structure of the human β-globin gene in β-thalassaemia [PDF]
, 1979 Twenty-one cases of β⁰- and β⁺-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the β- and δ-globin genes could be detected.
Bernards, R.A. +6 more
core +1 more source
The role of iron in normal and impaired testicular function
Andrology, EarlyView.Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer +2 more
wiley +1 more source
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 +3 more
wiley +1 more source