Results 51 to 60 of about 779,152 (196)

Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia [PDF]

Genetics and Molecular Biology, 2021
Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated ...
Ana María Soler, Bruna Facanali Piellusch, Lorena da Silveira, Gisele Audrei Pedroso, Pablo López, Enrique Savio, María de Fatima Sonati, Julio da Luz   +7 more
doaj   +1 more source

Prevalence of B-Thalassemia Carriers Among a Cohort of University Students in Hawler Province of Iraqi Kurdistan

Iraqi Journal of Pharmaceutical Sciences ( P-ISSN: 1683 - 3597 , E-ISSN : 2521 - 3512), 2017
         A representative sample of a thousand volunteer university students was screened for evidence of thalassemia minor.Complete blood counts using automated blood cell analysers and blood smears were examined. Patients having anemia, abnormal red cell indices or morphological features of thalassemia minor like hypochromia, microcytosis, target ...
Abdulkadir A. Alnakshabandi, Huda A. Muhammad   +1 more
openaire   +3 more sources

MOESM1 of A validated cellular biobank for β-thalassemia

, 2016
Additional file 1: Table S1. List of the subjects (patients and healthy subjects) present in the Thal-Biobank.
Cosenza, Lucia, Breda, Laura, Breveglieri, Giulia, Zuccato, Cristina, Finotti, Alessia, Lampronti, Ilaria, Borgatti, Monica, Chiavilli, Francesco, Gamberini, Maria, Satta, Stefania, Manunza, Laura, Martis, Franca, Moi, Paolo, Rivella, Stefano, Gambari, Roberto, Bianchi, Nicoletta   +15 more
openaire   +1 more source

Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia

, 2019
Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe.
Kiran R. Kharat (686460), Praveen K. Sahu (1846699), Preetinanda M. Dash (6021755), Ranjeet S. Mashon (6021761), Malay B. Mukherjee (6021764), Siris Patel (6021758)   +5 more
core   +1 more source

CRISPR Gene Therapy: A Promising One-Time Therapeutic Approach for Transfusion-Dependent β-Thalassemia—CRISPR-Cas9 Gene Editing for β-Thalassemia

, 2023
β-Thalassemia is an inherited hematological disorder that results from genetic changes in the β-globin gene, leading to the reduced or absent synthesis of β-globin.
Gayathri N. Silva, Kesari Warnakulasuriya, Udani Gamage, Sonali Hansika   +3 more
core   +1 more source

Genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To investigate the genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes.Methods·A retrospective cohort study was conducted among 3 649 pregnant women enrolled from January 2021 to ...
Li Jing, Liang Xuxia, Wu Hua, Zhang Chun, Lu Yanqun, Zhang Jihong   +5 more
doaj   +1 more source

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

Haematologica, 2009
Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for β0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies.
Maria Carla Sollaino, Maria Elisabetta Paglietti, Lucia Perseu, Nicolina Giagu, Daniela Loi, Renzo Galanello   +5 more
doaj   +1 more source

Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)⁰-thalassemia

, 2018
Objective and importance: To verify the presence of β-thalassemia in subjects showing hematologic phenotype of α-thalassemia, conduct normal molecular sequence analysis of the α-globin genes, and detect the absence of the most frequent α-thalassemia ...
Clelia Scarano (2879918), Sabrina Dembech (2879921), Francesca Del Vecchio Blanco (2879915), Romeo Prezioso (697049), Giovanna Cardiero (697046), Giuseppina Lacerra (697054)   +5 more
core   +1 more source

Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

, 2023
Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels.
Kausik Mandal, Poonam Tripathi, Aditya Narayan Sarangi, Anshul Gupta, Sarita Agarwal   +4 more
core   +1 more source

Transcriptional Repressors of Fetal Globin Genes as Novel Therapeutic Targets in Beta-Thalassemia [PDF]

, 2020
During development the human β-globin gene cluster undergoes two switching processes at the embryo-fetal and fetal-adult stages, respectively, involving changes in chromatin remodeling and in transcriptional regulatory networks. In particular, during the
Raffaele Sessa, Marianna De Martino, Michela Grosso, Mariarosaria Giuliano, Paola Izzo, Alessandra Lo Bianco, Silvia Trombetti, Rosa Catapano, Maria Rosaria Storino   +8 more
core   +1 more source