Results 21 to 30 of about 107,712 (298)
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.
New England Journal of Medicine, 2020 Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and fetal hemoglobin in
H. Frangoul +25 more
semanticscholar +1 more source
Journal of Clinical Investigation, 2021 Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblasts and erythrocytes, impacting ...
A. Matte +23 more
semanticscholar +1 more source
Blood Advances, 2021 Patients with sickle cell disease (SCD) and thalassemia experience several complications across their lifespan that lead to impairment in different health-related quality of life (HRQOL) domains.
S. Badawy +4 more
semanticscholar +1 more source
Molecular basis and diagnosis of thalassemia
Blood Research, 2021 Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current ...
Jee-Soo Lee +3 more
semanticscholar +1 more source
Thalassemia, a human blood disorder.
Brazilian journal of biology = Revista brasleira de biologia, 2021 A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or
F. Shafique +8 more
semanticscholar +1 more source
Pathomechanisms of Immunological Disturbances in β-Thalassemia
International Journal of Molecular Sciences, 2021 Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis.
Anna Gluba-Brzózka +5 more
semanticscholar +1 more source
Changing patterns in the epidemiology of β‐thalassemia
European Journal of Haematology, 2020 β‐thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload.
A. Kattamis +3 more
semanticscholar +1 more source
A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.
New England Journal of Medicine, 2020 BACKGROUND Patients with transfusion-dependent β-thalassemia need regular red-cell transfusions. Luspatercept, a recombinant fusion protein that binds to select transforming growth factor β superfamily ligands, may enhance erythroid maturation and reduce
M. Cappellini +40 more
semanticscholar +1 more source
Trends in Pediatrics, 2021 Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalassemias.
Tekin Aksu, Sule Unal
openaire +4 more sources
Thalassemia ENDOCRINOPATHIES IN THALASSEMIA PATIENTS
PAFMJ, 2021 Objective: To determine the common endocrine complications found in children having thalassemia major. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatric Medicine, Combined Military Hospital Multan, from May to Nov 2019. Methodology: A total of 160 Children with thalassemia were taken in this ...
Umer Touheed +5 more
openaire +3 more sources