Results 31 to 40 of about 2,697,911 (252)

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

Thalassemia Reports, 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.
Udani Gamage, Kesari Warnakulasuriya, Sonali Hansika, G. Silva   +3 more
semanticscholar   +1 more source

Development of the Quality of Life Questionnaire (SF-36) for Patients with β-Thalassemia Major and β-Thalassemia Intermedia Based on Extended Rasch Analysis

, 2021
The quality of life (QoL) questionnaire (SF-36) contains 36 questions in eight subscales. It requires much time to fill in by the respondent. The objective of this study was to use Rasch models to develop a questionnaire that brings the desired outcome ...
Safizadeh, H, Sharifi, F, Bahrampour, A, Hossein Safizadeh, Farshid Sharifi, Abbas Bahrampour   +5 more
core   +1 more source

Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China [PDF]

, 2023
PurposeTo explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time.MethodsIn the present study, 1,438 newborns of the Li minority were collected from January ...
Hui Wang, Zhendong Zhao, Wenli Wu, Haizhu Xu, Haijie Shi, Kun Zhong, Shi, Haijie, Wang, Hui, Wu, Wenli, Zhao, Zhendong, Zhong, Kun, Xu, Haizhu   +11 more
core   +1 more source

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families

Human Genomics, 2023
Background β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.
Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Yin   +10 more
doaj   +1 more source

New Insights Into Pathophysiology of β-Thalassemia

Frontiers in Medicine, 2022
β-thalassemia is a disease caused by genetic mutations including a nucleotide change, small insertions or deletions in the β-globin gene, or in rare cases, gross deletions into the β-globin gene.
Maria Sanchez-Villalobos, M. Blanquer, J. Moraleda, E. Salido, A. B. Pérez-Oliva   +4 more
semanticscholar   +1 more source

THE CORRELATION OF β/α MRNA RATIO WITH CLINICAL AND HEMATOLOGICAL PARAMETERS IN PATIENTS WITH β-THALASSEMIA SYNDROME

The Iraqi Journal of Medical Sciences, 2022
Background: Thalassemias are a group of genetically transmitted blood diseases characterized by defects in the production of α- or β-chains of hemoglobin called α-thalassemia and β-thalassemia, respectively.
May H. Yousif, Hind S. Al-Mamoori
doaj   +1 more source

Correlation between Serum Ferritin, Serum Cystatin C, and Renal Function in Children with β Thalassemia Major [PDF]

Majalah Kedokteran Bandung, 2019
Renal dysfunction caused by iron overload is characterized by an increase in ferritin and cystatin C levels. The objective of this study was to determine the correlation between ferritin, cystatin C, and renal function in children with β thalassemia major.
Suci Saptyuni Permadi, Lelani Renarti, Dedi Rachmadi   +2 more
openaire   +2 more sources

Alpha and beta-Thalassemia mutations in Hubei area of China

BMC Medical Genetics, 2020
Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China.
Yaowu Zhu, Na Shen, Xiong Wang, Juan Xiao, Yanjun Lu   +4 more
doaj   +1 more source

A phase 1 trial of lentiviral globin gene therapy with reduced intensity conditioning in adults with transfusion dependent β-thalassemia

Nature Medicine, 2022
β-Thalassemias are inherited anemias that are caused by the absent or insufficient production of the β chain of hemoglobin. Here we report 6–8-year follow-up of four adult patients with transfusion-dependent β-thalassemia who were infused with autologous
F. Boulad, A. Maggio, Xiu-Yan Wang, P. Moi, S. Acuto, Friederike Kogel, Chayamon Takpradit, S. Prockop, J. Mansilla-Soto, Annalisa Cabriolu, Ashlesha Odak, Jin-Rong Qu, K. Thummar, Fang Du, Ling-bo Shen, S. Raso, R. Barone, R. Di Maggio, L. Pitrolo, A. Giambona, M. Mingoia, J. Everett, Pascha Hokama, A. Roche, V. A. Cantu, Hriju Adhikari, Shantan Reddy, E. Bouhassira, N. Mohandas, F. Bushman, I. Rivière, M. Sadelain   +31 more
semanticscholar   +1 more source

Immunity to Pneumococcal Vaccine in Splenectomized β-Thalassemia Patients [PDF]

American Journal of Immunology, 2012
Problem statement: Splenectomy is accompanied by a lifelong risk of overwhelming post splenectomy infection, mainly caused by encapsulated bacteria such as Streptococcus pneumoniae. The mortality rate in those infected patients remains high. Therefore the pneumococcal polysaccharide vaccine has been recommended.
openaire   +1 more source