Results 21 to 30 of about 2,702 (213)
Journal of Pathology of Nepal, 2015 Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
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International Journal of Neonatal Screening, 2019 Thalassemia syndromes are among the most serious and common genetic conditions. They are indigenous in a wide but specific geographical area. However, through migration they are spreading across regions not previously affected. Thalassemias are caused by
Michael Angastiniotis, Stephan Lobitz
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Recent advances in β-thalassemias
Pediatric Reports, 2011 β-thalassemias, a group of autosomal recessive disorders resulting from reduced or absent production of β-globin chains from the β-globin locus, are very heterogeneous at the molecular level (for review see Weatherall & Clegg, 2001 and Cao & Galanello).1-
Antonio Cao, Paolo Moi, Renzo Galanello
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Frontiers in Pediatrics, 2022 Thalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder.
Syahirah Amnani Suhaimi +3 more
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Heterozygous β-thalassemia with thalassemia intermedia phenotype [PDF]
American Journal of Hematology, 1998 In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 39 nonsense mutation.
D, Gasperini +7 more
openaire +2 more sources
Pre-implantation Genetic Diagnosis of Thalassemias
Thai Journal of Obstetrics and Gynaecology, 2018 Beta-Thalassemia major, beta-thalassemia-Hb E disease and Hb Bart’s disease are severe hereditary anemia which are prevalent in Thailand and neighborhood countries.
Wirawit Piyamongkol
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Advanced Materials, EarlyView.Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode +16 more
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Haematologica, 2015 β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the β-globin gene or its regulatory elements have been associated with β ...
Stefano Rivella
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Advanced Science, EarlyView.T cell‐specific Socs1 knockout leads to inflammatory differentiation of CD8+ T cells, prompting the STAT1/2 complex to drive the activation of Ccl5, Ccr5, and Cxcr3, and promoting the skewing of monocytes toward a pro‐inflammatory M1 macrophage lineage.
Zhigui Wu +14 more
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