Results 151 to 160 of about 2,697,911 (252)
β-thalassemia is a hereditary disorder with limited approved treatment options; patients experience anemia and its complications, including iron overload.
A. Piga +14 more
semanticscholar +1 more source
ABSTRACT Children with SCD have elevated stroke risk, correlated with cerebral blood flow velocity (CBFV). HOPE Kids 2 was a phase 3, multicenter, double‐blind, placebo‐controlled trial evaluating the effect of voxelotor on CBFV. Participants aged 2 to < 15 years with SCD (HbSS/HbSβ0) and conditional CBFV (170 to < 200 cm/s) were randomized 1:1 to ...
Halima Bello‐Manga +58 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
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
High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes [PDF]
β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis.
Tan, Mary Anne Jin Ai +7 more
core +1 more source
Hematological ratios and cytokine profiles in heterozygous beta-thalassemia
Introduction: β-Thalassemia is defined by a reduced or complete absence of β-globin chain synthesis in hemoglobin, leading to hemolytic anemia. Heterozygous β-thalassemia, also known as β-thalassemia trait (hBTh), the mildest form of this anemia ...
Ana Carolina Marques Ciceri +11 more
doaj +1 more source
The role of iron in normal and impaired testicular function
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
The Progress in Treatment of β-Thalassemia and Research on Animal Models of the Disease
β-thalassemia is one of the most prevalent single-gene recessive disorders worldwide, characterized by the impaired synthesis of β-globin chains, which leads to ineffective erythropoiesis and results in anemia and iron overload, along with various ...
Shumeng Zhang +5 more
doaj +1 more source
The correlation between HLA class II and β-thalassemia major in Al-Karama teaching hospital
Background: Thalassemia is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin. Objective: Determine frequencies & association of HLA class II alleles (DRB1& DQB1) in Iraqi β-thalassemia major patients.
Sarmad M. Zeiny
doaj +1 more source
Among 108 Chinese patients who showed two β-thalassemia alleles on genotyping, five out of six β0/β0-thalassemia patients who co-inherited the SEA deletion showed β-thalassemia major phenotype, whereas all five patients with β0/β+-thalassemia and ...
Ma, ESK +5 more
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