ABSTRACT Objectives Although Advancements in the Treatment of Hemoglobinopathies have Considerably Increased Life Expectancy, Hormonal and Pubertal Development Have Been Continuously Affected by Complications From Transfusion‐Related Iron Overload and Cytotoxic Therapies.
J. Dülberg +20 more
wiley +1 more source
Copper Status in Major Thalassemia Patients in Zahedan South East of Iran
Introduction: There have been many reports and papers on deficient, normal and high levels of copper in patients with thalassemia major. The aim of this study is to evaluate copper status in a series of more than 300 patients with thalassemia major and ...
Mohamad Ali Mashhadi
doaj
Iron overload in beta thalassemia major patients
Aims: Beta thalassemia is the most common monogenic hereditary hemoglobin disorder, which poses a major health burden to SriLanka. Regular transfusions of erythrocytes required for survival of these patients lead to inevitable iron overload, which is ...
A. D. M. Karunaratna +2 more
semanticscholar +1 more source
Whole Blood Transcriptomic Analysis of Sickle Cell Trait
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson +12 more
wiley +1 more source
Cas9 beyond CRISPR – SUMOylation, effector‐like potential and pathogenic adaptation
This Viewpoint explores the possibility that Cas9, beyond its canonical role in CRISPR immunity, may act as a host‐modulating effector during infection by Cas9‐encoding bacteria. Such a nucleomodulin‐like function could be influenced by eukaryotic post‐translational modifications, particularly SUMOylation, with potential implications for host–pathogen ...
Umut Sahin
wiley +1 more source
The Perceived Role of God in Health and Illness: the Experience of Javanese Mothers Caring for a Child with Thalassemia [PDF]
Thalassemia is recognized as one of the major health problem in Indonesia. It is estimated that about 10% of Indonesian population are carrier of the mutated gene. Nevertheless Thalassemia is not well-understood by communities.
Widayanti, C. G. (Costrie)
core
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload [PDF]
Iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-loading anemias such as β-thalassemia. Treatment can be burdensome and have significant side effects, and new therapeutic options are needed.
Alan Waring +16 more
core +2 more sources
Assessment of disease knowledge gaps among beta thalassemia major patients and their caregivers [PDF]
Mariam Saad Nassim +3 more
openalex +1 more source
Human parvovirus B19 in patients with beta thalassemia major from Tehran, Iran
Background Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient ...
S. Arabzadeh +8 more
semanticscholar +1 more source

