A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia

QR Code

A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia

Abstract: β-Thalassemia is a common monogenic disorder caused by genetic defects in β-globin genes (HBB) resulting in imbalanced synthesis of α-/β-globin and ineffective erythropoiesis. It has been well documented that patients with β-thalassemia, or even carriers, mostly experience reactivation of...

Full description

Saved in:

Bibliographic Details
Main Authors:	Mengyang Song, Xiaolei Wei, Hualei Luo, Jueheng Wang, Yuhua Ye, Lang Qin, Chao Niu, Yong Long, Xingmin Wang, Congwen Shao, Miao Yu, Feng Gu, Xinhua Zhang, Xiangmin Xu
Format:	Article
Language:	English
Published:	Elsevier 2025-07-01
Series:	Blood Advances
Online Access:	http://www.sciencedirect.com/science/article/pii/S2473952925002095
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Challenges in prenatal diagnosis and genetic counselling in compound heterozygosity for beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH)
by: Dolat Singh Shekhawat, et al.
Published: (2025-06-01)

Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia
by: Cunha, Anderson Ferreira da, et al.
Published: (2012)

Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency
by: Miraç Seher Helvacı, et al.
Published: (2025-05-01)

Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia
by: Xiaobi LIU, et al.
Published: (2025-06-01)

Nitric Oxide / Cyclic Nucleotide Regulation of Globin Genes in Erythropoiesis
by: Čokić, Vladan P., et al.
Published: (2012)

Time Resolved Thermodynamics Associated with Diatomic Ligand Dissociation from Globins
by: Miksovska, Jaroslava, et al.
Published: (2011)

Utilizing loop-mediated isothermal amplification (LAMP) for detecting hemoglobin Constant Spring and hemoglobin Pakse mutations amidst the high prevalence and genetic heterogeneity of thalassemia in Thailand
by: Kasama Wongprachum, et al.
Published: (2025-07-01)

Candidate SNP-markers altering TBP binding affinity for promoters of the Y-linked genes CDY2A, SHOX, and ZFY are lowering many indexes of reproductive potential in men
by: M. P. Ponomarenko, et al.
Published: (2020-12-01)

Fetal hemoglobin enables malaria parasite growth in sickle cells but augments production of transmission stage parasites.
by: Catherine Lavazec, et al.
Published: (2025-01-01)

Fetal hemoglobin enables malaria parasite growth in sickle cells but augments production of transmission stage parasites
by: Catherine Lavazec, et al.
Published: (2025-01-01)

Association of Fetal Hemoglobin and Auto-splenectomy in Saudi Adults with Sickle Cell Disease: A Retrospective Study
by: Ibtihal S Alsaad, et al.
Published: (2025-04-01)

Associations between Serum Ferritin Levels, Age-stratified Hematological Parameters, and Hemoglobin A2 Levels in Iraqi Beta Thalassemia Carriers
by: Zainab W. Al-Maaroof, et al.
Published: (2025-04-01)

Thalassemia Syndrome
by: Surapon, Tangvarasittichai
Published: (2011)

Associations of glycated hemoglobin with hemoglobin levels and erythrocyte parameters
by: Ye.I. Dzis, et al.
Published: (2025-03-01)

Adeno Associated Virus Mediated β-Thalassemia Gene Therapy
by: Tan, Mengqun, et al.
Published: (2011)

Distribution Ratio Prediction of Major Components in 30%TBP/kerosene-HNO3 System Based on Machine Learning
by: YU Ting1, ZHANG Yinyin2, ZHANG Ruizhi3, JIN Wenlei2, LUO Yingting2, ZHU Shengfeng3, HE Hui1, YE Guoan1, GONG Helin4,
Published: (2025-06-01)

Case of type 1 diabetes mellitus with decreased hemoglobin glycation index after switching insulin pump
by: Momoka Hasegawa, et al.
Published: (2025-07-01)

The effects of SN Ps in the regions of positioning RNA polymerase II on the TBP/promoter affinity in the genes of human circadian clock
by: O. A. Podkolodnaya, et al.
Published: (2016-01-01)

Alpha Thalassemia Disorders
by: Arica, Vefik, et al.
Published: (2012)

Molecular Basis of Thalassemia
by: Grosso, Michela, et al.
Published: (2012)

Utilization of Fetal Hemoglobin Parameters in Predicting Clinical Severity of Sickle Cell Disease: Retrospective Study From a Tanzanian Cohort
by: Haji HM, et al.
Published: (2025-07-01)

Physicochemical properties and oxygen affinity of glutaraldehyde polymerized crocodile hemoglobin: the new alternative hemoglobin source for hemoglobin-based oxygen carriers
by: Napaporn Roamcharern, et al.
Published: (2019-12-01)

Genomic Study in β-Thalassemia
by: Svasti, Saovaros, et al.
Published: (2011)

Fetal‐hemoglobin‐expressing red blood cells (“F cells”) consist of three distinct types as revealed by single‐cell transcriptomic analysis of circulating reticulocytes
by: Helen Rooks, et al.
Published: (2025-06-01)

Concordance between Reticulocyte Hemoglobin Equivalent and Reticulocyte Hemoglobin Content in CKD Patients Undergoing Hemodialysis
by: Riadi Wirawan, et al.
Published: (2017-05-01)

Concordance between Reticulocyte Hemoglobin Equivalent and Reticulocyte Hemoglobin Content in CKD Patients Undergoing Hemodialysis
by: Riadi Wirawan, et al.
Published: (2017-05-01)

The Mental Burden of Parents of Children with Thalassemia
by: Gita Septyana, et al.
Published: (2019-04-01)

Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing
by: Yuhua Ye, et al.
Published: (2025-03-01)

A Comparative Study of Liver and Kidney Function Indicators in Patients with Beta-thalassemia Major and Beta-thalassemia Trait
by: Enaam AL-Dagestani, et al.
Published: (2025-06-01)

Gestational Hyperglycemia, Excessive Pregnancy Weight Gain and Risk of Fetal Overgrowth
by: Chen, Xinhua, et al.
Published: (2011)

Hemoglobin: Modification, Crystallization, Polymerization (Review)
by: V. A. Sergunova, et al.
Published: (2017-01-01)

Pregnancy and childbirth in women with thalassemia: past and present
by: Anna Demurtas, et al.
Published: (2025-07-01)

Investigation of the incidence of Toxoplasmosis and cytomegalovirus in patients with thalassemia
by: Ali Yonis Saleh, et al.
Published: (2019-01-01)

Splenectomy in Pregnant Patient with Sickle Beta-Thalassemia
by: Adel F. Al-Marzouki, et al.
Published: (2025-04-01)

Follow-Up of Patients Undergoing Thalidomide Therapy for Transfusion-Dependent β-Thalassemia: A Single Thalassemia Center Cohort Study
by: Kiran Kanwal, et al.
Published: (2025-07-01)

Recent New Characterizations on the Giant Extracellular Hemoglobin of Glossoscolex paulistus and Some Other Giant Hemoglobins from Different Worms
by: Tabak, Marcel, et al.
Published: (2012)

SNP_TATA_COMPARATOR: Web SERVICE FOR COMPARISON OF SNPs WITHIN GENE PROMOTЕRS ASSOCIATED WITH HUMAN DISEASES USING THE EQUILIBRIUM EQUATION OF THE TBP/TATA COMPLEX
by: D. A. Rasskazov, et al.
Published: (2015-01-01)

Molecular and hematological characteristics of two different δ-globin promoter variants, δ−276(A>G) and δ−77(T >C) among Thai, Burmese, and Laotian subjects
by: Sitthichai Panyasai, et al.
Published: (2025-07-01)

Hemoglobin in cardiogenic shock: the lower, the poorer survival
by: Miloud Cherbi, et al.
Published: (2025-06-01)

Fetal-BET: Brain Extraction Tool for Fetal MRI
by: Razieh Faghihpirayesh, et al.
Published: (2024-01-01)