Results 21 to 30 of about 114,325 (234)
The shortcut strategy for beta thalassemia prevention
Hematology Reports, 2018 We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples.
Narutchala Suwannakhon +6 more
doaj +1 more source
FEBS Letters, EarlyView.Although too much iron in the brain promotes neurodegeneration, iron ion chelators have had mixed effects in clinical trials. This review explains why; some chelators do not render the iron redox‐inactive (e.g., L1) whereas others do (e.g., desferrioxamine).
Barry Halliwell
wiley +1 more source
Molecular Oncology, EarlyView.This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu +3 more
wiley +1 more source
Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing
Advanced Science, EarlyView.A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo +11 more
wiley +1 more source
Mediterranean Journal of Hematology and Infectious Diseases, 2009 Hematopoietic stem cell transplantation (HSCT) still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia.
Marco Marziali +3 more
doaj +1 more source
Thalassemia Reports, 2012 Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos +2 more
doaj +1 more source
INHERITED BONE MARROW FAILURE SYNDROMES WITH PANCYTOPAENIA [PDF]
European Medical Journal Hematology, 2014 Bone marrow failure (BMF) is characterised by a reduction in the effective production of mature erythrocytes, granulocytes, and platelets by the bone marrow that leads to peripheral blood pancytopaenia.
Sophia Delicou +5 more
doaj
BMC Public Health, 2021 Background Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems.
Julia Z. Xu +8 more
doaj +1 more source
Management of the Thalassemias [PDF]
Cold Spring Harbor Perspectives in Medicine, 2013 During the last 30 years, in addition to the considerable progress made in control and prevention of thalassemias(3), there have also been major advances in their symptomatic management, at least in wealthier countries where appropriate facilities are available.
Nancy F, Olivieri, Gary M, Brittenham
openaire +2 more sources
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source