Results 51 to 60 of about 2,702 (213)
Mediterranean Journal of Hematology and Infectious Diseases, 2019 Therapeutic advances, including the availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with thalassemia, with a consequent increase in their reproductive potential and desire to have children.
Raffaella Origa, Federica Comitini
openaire +4 more sources
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura
Genetics and Molecular Biology, 2012 The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the ...
Greice Lemos Cardoso +2 more
doaj
G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution
American Journal of Hematology, EarlyView.
Akshay Sharma +17 more
wiley +1 more source
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +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
Journal of Family Medicine and Primary Care, 2014 Context: The birth of transfusion-dependent states of hemoglobinopathies including thalassemias is preventable by population screening and genetic counseling.
Bidyut Krishna Goswami +5 more
doaj +1 more source
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives Sleep‐disordered breathing (SDB) and cognitive challenges are commonly observed in children living with sickle cell anaemia (SCA). This study investigated the longitudinal change in polysomnographic outcomes and the association with cognitive functions in children living with SCA.
Shifa Hamdule +5 more
wiley +1 more source
Whole Blood Transcriptomic Analysis of Sickle Cell Trait
European Journal of Haematology, EarlyView.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