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Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.
Cell Rep
January 2025
Department of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA; Eli & Edythe Broad Center for Regeneration Medicine, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Bioengineering & Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:
The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the imbalance of β-globin and α-globin chains. Despite progress in genome editing treatments for β-thalassemia, there is no analogous curative option for α-thalassemia.
View Article and Find Full Text PDFContext: Anemia is a medical condition resulting from a reduction in the number of red blood cells below the reference range. It is a major public health problem, particularly among adolescents, as it can have negative effects on cognitive performance, growth and reproduction. This study aims to assess the determinants of anemia among adolescents in schools in the city of Douala.
View Article and Find Full Text PDFPrenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFClinical and Radiologic Differences in Lung Involvement Between IgG4-Related Disease and Plasma Cell-Type Idiopathic Multicentric Castleman Disease.
Lung
January 2025
Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China.
Purposes: Immunoglobulin G4-related disease (IgG4-RD) and plasma cell-type idiopathic multicentric Castleman disease (PC-iMCD) have many overlapping features. Their differential diagnosis is challenging and crucial for clinical management due to their different prognoses and treatments. However, reports that compare these conditions are scarce, especially for patients with lung involvement.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Center of Excellence in Cardiac Electrophysiology Research, Chiang Mai University, Chiang Mai, Thailand.
Background: Thalassemia is a hereditary disease with impaired red blood cell production, resulting in cumulative systemic iron burden. The life-long therapeutic blood transfusion with or without iron chelators in those patients leads to the development of early-onset neurocognitive decline. However, the effects of regularity of blood transfusion on the severity of iron burden, cognitive decline, and gut dysbiosis in thalassemia patients are still unclear.
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