Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling
Background Beta thalassemia, related to HBB mutation and associated with elevated
hemoglobin A2 (HbA2), is an important genetic hemoglobinopathy with high incidences of …
hemoglobin A2 (HbA2), is an important genetic hemoglobinopathy with high incidences of …
Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin …
M Shao, Y Wan, W Cao, J Yang, D Cui, M Ma… - Frontiers in …, 2023 - frontiersin.org
Background Thalassemia is a common inherited hemoglobin disorder caused by a
deficiency of one or more globin subunits. Substitution variants and deletions in the HBB …
deficiency of one or more globin subunits. Substitution variants and deletions in the HBB …
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia
P Chaweephisal, A Phusua, K Fanhchaksai… - Blood Cells, Molecules …, 2019 - Elsevier
Introduction Identification of beta-thalassemia carrier in prenatal screening relies on the
elevated Hb A 2 level. Borderline Hb A 2 levels pose a diagnostic challenge. We determined …
elevated Hb A 2 level. Borderline Hb A 2 levels pose a diagnostic challenge. We determined …
Combined gap-polymerase chain reaction and targeted next-generation sequencing improve α-and β-Thalassemia carrier screening in pregnant women in Vietnam
Vietnam has a high thalassemia burden. We collected blood samples from 5880 pregnant
Vietnamese women during prenatal health checks to assess thalassemia carrier frequency …
Vietnamese women during prenatal health checks to assess thalassemia carrier frequency …
[HTML][HTML] Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies
X Shang, Z Peng, Y Ye, X Zhang, Y Chen, B Zhu… - …, 2017 - thelancet.com
Hemoglobinopathies are among the most common autosomal-recessive disorders
worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate …
worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate …
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China
H Luo, T Huang, Q Lu, L Zhang, Y Xu, Y Yang… - Frontiers in …, 2022 - frontiersin.org
Background and aims: Hemoglobinopathy associated with the HBB gene, with its two
general subtypes as thalassemia and abnormal hemoglobin (Hb) variants, is one of the most …
general subtypes as thalassemia and abnormal hemoglobin (Hb) variants, is one of the most …
Noninvasive prenatal detection of hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the semiconductor sequencing …
J Yang, C Peng, Y Qi, X Rao, F Guo, Y Hou… - American Journal of …, 2020 - Elsevier
Background Thalassemia is one of the most common monogenetic diseases in the south of
China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a …
China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a …
[PDF][PDF] Whole gene sequencing based screening approach to detect β-thalassemia mutations
About 200 causative mutations are characterized in the β-globin gene. Beta thalassemia
diagnosis is very complicated due to the genetic diversity of HBB gene across different …
diagnosis is very complicated due to the genetic diversity of HBB gene across different …
Accurate and rapid prenatal diagnosis of beta-thalassemia by a multiplex primer extension and denaturing high-performance liquid chromatography technique
L Hua, H Zhu, XR Li, J Li, QH Mo, C Liao… - Zhonghua yi xue yi …, 2004 - europepmc.org
Objective To develop a primer-extension in combination with denaturing high-performance
liquid chromatography (PE-DHPLC)-based assay for prenatal diagnosis of the five most …
liquid chromatography (PE-DHPLC)-based assay for prenatal diagnosis of the five most …
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
Y Yuan, X Zhou, J Deng, Q Zhu, Z Peng, L Chen… - Frontiers in …, 2023 - frontiersin.org
Background: Thalassemia is a hereditary blood disease resulting from globin chain
synthesis impairment because of α-and/or β-globin gene variants. α-thalassemia is …
synthesis impairment because of α-and/or β-globin gene variants. α-thalassemia is …