Thalassemia β major is a hereditary disorder caused by mutations in the β-globin gene, which regulates the formation of one of the components that make up hemoglobin. This disorder results in the production of β-globin chains being reduced or not formed.
Fantya Cerebella Aslamy +2 more
doaj +1 more source
Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]
Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
core +1 more source
Iron deposits in the knee joints of a thalassemic patient [PDF]
The overall prognosis for patients with β-thalassemia has improved considerably during the past decades mainly due to regular blood transfusions, improvements in chelation therapy, and enhanced surveillance with imaging studies examining iron overload ...
Economides, Charalambos P +4 more
core +2 more sources
The Effect of Silymarin on Serum Concentration of Soluble Apoptosis Markers in β-Thalassemia Major Patients Receiving Desferrioxamine [PDF]
Background: Despite appropriate chelation therapy with desferrioxamine, iron deposition in visceral organs causes tissue damage in thalassemia major patients.
Esmaeil, N. +4 more
core +1 more source
β-thalassemia, a hereditary blood disorder caused by defective synthesis of hemoglobin β globin chains, leads to ineffective erythropoiesis and chronic anemia that may require blood transfusions.
Maria Domenica Cappellini +19 more
doaj +1 more source
The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin +7 more
wiley +1 more source
Mutational analysis of the Janus kinase II (V617F) gene in patients with β-Thalassemia major
β-Thalassemia is a group of congenital hemolytic anemia that characterized by the underproduction of the indispensable hemoglobin molecule, the oxygen and carbon dioxide carrying protein inside the red cells.
Salar Adnan Ahmed
doaj +3 more sources
Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia
Background: β-thalassemia is a hereditary blood disorder resulting in ineffective erythropoiesis and anemia. Management of anemia with regular blood transfusions is associated with complications including iron overload.
Antonio Piga +10 more
doaj +1 more source
Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype [PDF]
Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome.
ATTANASIO, Massimo +11 more
core +1 more source
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng +8 more
wiley +1 more source

