Results 161 to 170 of about 965,280 (210)

Epidemiological survey of non-deletional α-thalassemia in population of Xiamen area

, 2014
目的调查厦门地区非缺失型α-地中海贫血的发生率,探讨在厦门地区开展非缺失型α-地中海贫血检测的必要性和意义。方法收集2013年1至6月厦门市妇幼保健院的α-地中海贫血高危人群的外周血及脐带血标本450份,经核酸基因组提取后,利用的荧光PCr熔解曲线法对这450份样本进行三种常见非缺失型α-地中海贫血基因(αCSα/、αQSα/、αWSα/)检测,再综合常见三种缺失型α-地中海贫血基因(--SEA/、-α3.7/、-α4.2/)检测结果,判定标本的α-地中海贫血基因型,统计非缺失型α-地中海贫血发生率 ...
孔德佳, 王旭东, 李庆阁, 周裕林, 黄秋英, 郭奇伟   +5 more
core  

A novel polyadenylation signal variant NM_000517.6 (<i>HBA2</i>): c.*92_*97delinsTA causing α-thalassemia in two Chinese families. [PDF]

Front Med (Lausanne)
Huang W, Lai X, Zhang N, Su Y, Yang Y, Wei H, Hong S.   +6 more
europepmc   +1 more source

Advances in the management of α-thalassemia major: reasons to be optimistic. [PDF]

Hematology Am Soc Hematol Educ Program, 2021
Horvei P, MacKenzie T, Kharbanda S.
europepmc   +1 more source

Importance of the 3'UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia. [PDF]

Ann Hematol
Benito SF, Abío M, Bardón-Cancho EJ, Nieto JM, Ortega B, González FA, Villegas A, Benavente C, Ropero P.   +8 more
europepmc   +1 more source

Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA. [PDF]

Sci Rep, 2022
Doan PL, Nguyen DA, Le QT, Hoang DT, Nguyen HD, Nguyen CC, Doan KPT, Tran NT, Ha TMT, Trinh THN, Nguyen VT, Bui CT, Lai NT, Duong TH, Mai HL, Huynh PV, Huynh TTT, Le QV, Vo TB, Dao TH, Vo PA, Le DN, Tran NNT, Tran QNT, Van YT, Tran HT, Nguyen HT, Nguyen PU, Do TT, Truong DK, Tang HS, Cao NT, Lam TT, Tran LS, Nguyen HN, Giang H, Phan MD.   +36 more
europepmc   +1 more source

Innovative Rapid Detection System for Nondeletion-Type α‑Thalassemia via Whole-Blood Amplification and Microfluidic Technology. [PDF]

ACS Omega
Wei Y, Zhao Y, Ye C, Xie M, Zhou X, Youqiong L, Huiyuan G, Qing J, Tan T, Chen Z.   +9 more
europepmc   +1 more source

Discordantly high glycated hemoglobin might assist in diagnosing α-thalassemia, but not diabetes: A case report. [PDF]

J Diabetes Investig, 2022
Gao W, Jin Y, Huang Y, Tang H.
europepmc   +1 more source

Consensus statement for the perinatal management of patients with α thalassemia major. [PDF]

Blood Adv, 2021
MacKenzie TC, Amid A, Angastiniotis M, Butler C, Gilbert S, Gonzalez J, Keller RL, Kharbanda S, Kirby-Allen M, Koenig BA, Kyono W, Lal A, Lianoglou BR, Norton ME, Ogasawara KK, Panchalee T, Rosner M, Schwab M, Thompson A, Waye JS, Vichinsky E.   +20 more
europepmc   +1 more source

Combined heterozygosity for the highly unstable variant hemoglobin Taybe, and α-thalassemia as a rare cause of hemolytic anemia. [PDF]

Ann Hematol
Nagel SN, Brintrup J, Ghannam Y, Stallmach A, Hochhaus A, Ripoll C, Cario H, Schrenk KG.   +7 more
europepmc   +1 more source

Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China. [PDF]

Front Genet, 2023
Yuan Y, Zhou X, Deng J, Zhu Q, Peng Z, Chen L, Zou Y, Mao A, Meng W, Ma M, Wu H.   +10 more
europepmc   +1 more source