Results 11 to 20 of about 2,697,911 (252)

Hubungan Tipe Thalassemia β serta Polimorfisme c.-582 A>G Promotor Gen HAMP dan Status Besi thalassemia β Berat Baru

open access: yesMajalah Kedokteran Bandung, 2015
Iron overload is the common cause of morbidity and mortality in severe β-thalassemia patients. Many factors influence the iron status in severe β-thalassemia.
Susi Susanah, Ponpon Idjradinata
doaj   +2 more sources

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

open access: yesFrontiers in Medicine, 2022
Objectives To verify with hematimetric data that the diagnosis and clinical grade of β-TI can be established when a triplication of alpha genes (αααanti 3.7) and heterozygous β-thalassemia coexist.
P. Ropero   +4 more
semanticscholar   +2 more sources

Pathomechanisms of Immunological Disturbances in β-Thalassemia

open access: yesInternational 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   +2 more sources

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers

open access: yesAnnals of Hematology
β-thalassemia is one of the most common single-gene inherited conditions in the world, prevalence of β-thalassaemia in south China is 3–4%,increased Hb A2 level is one of the most important markers of β-thalassemia heterozygous carriers.Interaction of ...
Lei Zhang   +8 more
doaj   +2 more sources

Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β–Thalassemia [PDF]

open access: yesBiomolecules, 2021
Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe.
Nur Atikah Zakaria   +7 more
doaj   +2 more sources

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand

open access: yesAnnals of Medicine
Background Thalassemia is the most common hereditary anemia worldwide. Beta-thalassemia results from mutations in HBB gene, causing either absent (β0) or decreased (β+) production of β-globin.
Punwadee Rukwong   +7 more
doaj   +2 more sources

Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review. [PDF]

open access: yesMol Genet Genomic Med
β‐Thalassemia intermedia exhibits distinct region‐specific molecular patterns shaped by three interacting genetic axes: β‐globin mutation severity, HbF‐inducing modifiers, and α‐globin gene dosage. Mediterranean populations are predominantly mutation‐driven, Middle Eastern populations rely on HbF compensation, and Asian populations are governed by ...
Fernando K, Perera S, Premawardhena A.
europepmc   +2 more sources

Platelet-Derived Microparticle Count in β-Thalassemia Patients with Direct Labeling Monoclonal Antibody CD62P and CD41 [PDF]

open access: yesMajalah Kedokteran Bandung, 2020
Thromboembolic events are potentially life-threatening clinical complications found in β-thalassemia patients. The pathogenesis of the hypercoagulable state in β-thalassemia patients results from the degradation of excess α-globin chains in red blood cells, leading to intracellular labile iron accumulation, oxidative stress, and more rigid, deformed,
Ivan Lumban Toruan   +2 more
openaire   +2 more sources

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia.

open access: yesNew 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

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

open access: yesFrontiers in Pediatrics, 2022
BackgroundThalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia are important for designing appropriate prevention strategies for thalassemia.
Ying Yu   +11 more
doaj   +1 more source

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