Results 131 to 140 of about 1,044,639 (194)

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

In this short review, we presented and discussed studies on the expression of globin genes in β-thalassemia, focusing on the impact of α-globin gene expression and α-globin modifiers on the phenotype and clinical severity of β-thalassemia.
Traeger-Synodinos, Joanne, Vrettou, Christina, Zurlo, Matteo, Finotti, Alessia, Sofocleous, Christalena, Gambari, Roberto   +5 more
core  

Planting seeds of cure before birth in α-thalassemia major. [PDF]

Blood Adv
Rozmus J, Amid A.
europepmc   +1 more source

Molecular Spectrum of α-Thalassemia Mutations in Antalya, Türkiye and Their Relationship with Hematological Parameters. [PDF]

Genes (Basel)
Erkal Ö, Paksoy B.
europepmc   +1 more source

Molecular analysis of α-thalassemia in Nepal: correlation with malaria endemicity

Thalassemia is a prevalent hereditary disorder characterized by impaired synthesis of globin chains. It has been suggested that the high frequency of thalassemia might reflect heterozygote advantage due to reduced susceptibility to malaria.
Shibata, H., Kawasaki, T., フクマキ, ヤスユキ, Hamano, S., サカイ, ヤスヨシ, シバタ, ヒロキ, Furuumi, H., Kobayashi, S., Fucharoen, S., 服巻, 保幸, Sakai, Y., 柴田, 弘紀, Endo, T., 酒井, 保禎, Fukumaki, Y., Acharya, G. P.   +15 more
core   +1 more source

In utero hematopoietic cell transplantation in fetuses with α-thalassemia major: a phase 1 clinical trial. [PDF]

Blood Adv
MacKenzie TC, Lianoglou BR, Gonzalez Velez J, Dvorak CC, Kharbanda S, Herzeg A, Canepa E, Kreger EM, Frascoli M, Sper R, Gupta AR, Leung J, Tang Q, Sinha R, Worthington AK, Gano D, Bakkour Coco S, Chafets D, Keller RL, Shimotake J, Lal A, Glenn OA, Moon-Grady AJ, Vichinsky E.   +23 more
europepmc   +1 more source

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia. [PDF]

Front Endocrinol (Lausanne), 2023
Lan Y, Zhou H, He S, Shu J, Liang L, Wei H, Luo J, Wang C, Zhao X, Qiu Q, Huang P.   +10 more
europepmc   +1 more source

A machine-learning capillary electrophoresis-based pattern to identify suspected sickle cell trait and α-thalassemia co-inheritance. [PDF]

Adv Lab Med
Ceacero-Marín D, Cortés Bosch de Basea A, Puig-Pey Comas I, Vidal Pla M, Sánchez Navarro L.   +4 more
europepmc   +1 more source

Application of Cell-Free DNA Barcode-Enabled Single-Molecule Test for Non-Invasive Prenatal Testing of α-Thalassemia and β-Thalassemia. [PDF]

J Clin Lab Anal
Liu Q, Ma N, Tang W, Chen Q, Tang D, Zeng C, Wang X, Xi H.   +7 more
europepmc   +1 more source

Establishment of a rapid and highly sensitive direct-RAA-RDB detection platform: application in non-deletion α-thalassemia. [PDF]

Front Mol Biosci
Wei Y, Zhao Y, Ye C, Xie M, Zhou X, Ma J, Liu X, Qing J, Chen Z.   +8 more
europepmc   +1 more source

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis. [PDF]

Front Genet, 2023
Wang J, Ma Y, Guo J, Li R, Zhou C, Xu Y.
europepmc   +1 more source