Diagnostic and prognostic contribution of targeted NGS in patients with triple‐negative myeloproliferative neoplasms
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Hematology"
DOI: 10.1002/ajh.25580
Abstract: REFERENCES 1. Taher AT, Weatherall DJ, Cappellini MD. Thalassemia. Lancet. 2018; 391(10116):155-167. 2. Cappellini MD, Porter JB, Viprakasit V, Taher AT. A paradigm shift on beta-thalassemia treatment: how will we manage this old disease with… read more here.
Keywords: diagnostic prognostic; contribution targeted; thalassemia; prognostic contribution ... See more keywords
Management of non‐transfusion‐dependent β‐thalassemia (NTDT): The next 5 years
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Hematology"
DOI: 10.1002/ajh.26055
Abstract: To the Editor: Management of patients with β-thalassemia is undergoing a swift evolution, considering the number of novel agents recently receiving marketing approval or entering clinical development. Although (thankfully) the availability of new treatment options… read more here.
Keywords: ineffective erythropoiesis; thalassemia; management; transfusion ... See more keywords
Molecular Characterization of α‐ and β‐Thalassemia Among Children Less Than 18 Years Old in Guizhou, China
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.25022
Abstract: Thalassemia is an inherited hemolytic disease, the complications and sequelae of which have posed a huge impact on both patients and society. But limited studies have investigated the molecular characterization of α‐ and β‐thalassemia in… read more here.
Keywords: characterization thalassemia; thalassemia among; guizhou china; thalassemia ... See more keywords
Marrow Fat Content and Composition in β‐Thalassemia: A Study using 1H‐MRS
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DOI: 10.1002/jmri.27294
Abstract: β‐thalassemia is a genetic disease that causes abnormal production of red blood cells (ineffective erythropoiesis, IE). IE is a condition known to change bone marrow composition. read more here.
Keywords: thalassemia; marrow fat; marrow; fat content ... See more keywords
Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia
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DOI: 10.1002/mgg3.680
Abstract: Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but… read more here.
Keywords: china southeast; thalassemia; southeast asia; gene mutation ... See more keywords
Identification of a rare [Gγ(Aγδβ)0] -thalassemia using tandem mass spectrometry
Sign Up to like & getrecommendations! Published in 2024 at "Proteomics"
DOI: 10.1002/pmic.202300495
Abstract: Thalassemias are a group of inherited monogenic disorders characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. Delta‐beta (δβ‐) thalassemia has large deletions in the… read more here.
Keywords: tandem mass; globin; thalassemia; mass spectrometry ... See more keywords
Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Hematology"
DOI: 10.1007/s00277-017-3089-4
Abstract: Hemoglobin (Hb) E (HBB:c.79G>A)/β-thalassemia disease is the most common thalassemia syndrome in Southeast Asian countries with a high prevalence of Hb E. Even though patients could present with a wide spectrum of clinical severity, the… read more here.
Keywords: phenotype; prenatal control; homozygote; thalassemia ... See more keywords
Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia
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DOI: 10.1007/s00277-020-04017-2
Abstract: Dear Editor, Thalassemia is an autosomal recessive blood disorder caused by mutations in globin genes. Mutation in α-globin and β-globin gene results in reduced or absent synthesis of alpha and beta globin chain [1]. Thalassemia… read more here.
Keywords: globin; hematology; thalassemia; form ... See more keywords
Thalassemia in the emergency department: special considerations for a rare disease
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DOI: 10.1007/s00277-020-04164-6
Abstract: Thalassemia is characterized by a defect in the synthesis of one or more of the globin subunits of hemoglobin. This defect results in imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and… read more here.
Keywords: thalassemia; disease; emergency department; emergency ... See more keywords
Effects of three months of treatment with vitamin E and N-acetyl cysteine on the oxidative balance in patients with transfusion-dependent β-thalassemia
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DOI: 10.1007/s00277-020-04346-2
Abstract: Oxidative stress is a major mechanism contributing to the progression of β-thalassemia. To assess the effect of vitamin E and N-acetyl cysteine (NAC) as antioxidant agents on total oxidative stress (TOS) status and total antioxidant… read more here.
Keywords: treatment; group; thalassemia; vitamin acetyl ... See more keywords
Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing
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DOI: 10.1007/s00277-025-06394-y
Abstract: This genetic epidemiological study aimed to investigate the prevalence of various types of thalassemia among the Buyi population in Qiannan Prefecture, Guizhou Province, China. A total of 1,003 Buyi individuals from five regions in Qiannan… read more here.
Keywords: buyi population; population qiannan; population; thalassemia ... See more keywords