Results 111 to 120 of about 2,697,911 (252)
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source
Hepcidin is suppressed by erythropoiesis in hemoglobin E β-thalassemia and β-thalassemia trait.
, 2015 HbE β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is ...
Drakesmith, Hal +16 more
core +1 more source
Ineffective Erythropoiesis in β-Thalassemia [PDF]
, 2013 In humans, β-thalassemia dyserythropoiesis is characterized by expansion of early erythroid precursors and erythroid progenitors and then ineffective erythropoiesis.
Ivan Cruz Moura +5 more
core +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
BMC Medical Genetics, 2010 Background The clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of α-thalassemia.
Sun Manna +8 more
doaj +1 more source
Challenges of blood transfusions in β-thalassemia.
Blood reviews, 2019 Patients with β-thalassemia major (BTM) require regular blood transfusions, supported by appropriate iron chelation therapy (ICT), throughout their life.
F. Shah +4 more
semanticscholar +1 more source
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
Journal of Bio-X ResearchBackground: Thalassemia is a prevalent condition characterized by decreased production or absence of hemoglobin globin chains. There are 2 types of thalassemia, alpha thalassemia and beta thalassemia (β-thalassemia), classified according to defects in ...
Sumaia Saif +5 more
doaj +1 more source
Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality
Prenatal Diagnosis, EarlyView.ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou +7 more
wiley +1 more source