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References from Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China. Local targets link to admitted publications; unresolved targets remain external evidence.
The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies
10.3389/fphys.2021.686689 · 2021 · External reference
Molecular patterns of alpha-thalassemia in the Kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence
10.1186/s12959-023-00560-w · 2023 · External reference
Thalassemia and iron overload cardiomyopathy: pathophysiological insights, clinical implications, and management strategies
10.1016/j.cpcardiol.2024.102911 · 2025 · External reference
Hb J-Baltimore [beta 16(A13)Gly-- >Asp] associated with beta(+)-thalassemia in a Spanish family
10.3109/03630269609027913 · 1996 · External reference
Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China
10.1038/s41598-026-47829-4 · 2026 · External reference
Compounded with hemoglobin port phillip and -alpha(4.2) or --(SEA) deletions were identified in Chinese population
10.1002/mgg3.1699 · 2021 · External reference
Application of diagnostic methods and molecular diagnosis of hemoglobin disorders in Khuzestan province of Iran
10.4103/0971-6866.32028 · 2007 · External reference
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
10.1038/gim.2016.218 · 2017 · External reference
Molecular characterization of alpha- and beta-thalassaemia among children from 1 to 10 years of age in Guangxi, A multi-ethnic region in southern China
10.3389/fped.2021.724196 · 2021 · External reference
beta-Thalassemia gene editing therapy: advancements and difficulties
10.1097/md.0000000000038036 · 2024 · External reference
Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing
10.1016/j.gene.2022.146438 · 2022 · External reference
ClinGen hemoglobinopathy variant curation expert panel. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen hemoglobinopathy variant curation expert panel
10.1002/humu.24280 · 2022 · External reference
CRISPR-based gene therapies: from preclinical to clinical treatments
10.3390/cells13100800 · 2024 · External reference
New trend in the epidemiology of thalassaemia
10.1016/j.bpobgyn.2016.10.013 · 2017 · External reference
A reliable and high throughput HPLC-HRMS method for the rapid screening of beta-thalassemia and hemoglobinopathy in dried blood spots
10.1515/cclm-2022-0706 · 2023 · External reference
Epidemiology of clinically significant forms of alpha- and beta-thalassemia: a global map of evidence and gaps
10.1002/ajh.27006 · 2023 · External reference
CASGEVY makes history as FDA approves first CRISPR/Cas9 genome edited therapy
10.1089/hum.2023.29263.bfs · 2024 · External reference
Frequencies of beta thalassemia mutations show different pattern in bannu region than other parts of Pashtun population in Khyber Pakhtunkhwa province Pakistan
10.1007/s12288-020-01361-1 · 2021 · External reference
Thalassemia major and associated psychosocial problems: a narrative review
10.18502/ijph.v51i1.8287 · 2022 · External reference
Global, regional, and national burden of thalassemia, 1990-2021: a systematic analysis for the global burden of disease study 2021
10.1016/j.eclinm.2024.102619 · 2024 · External reference
Spectrum of beta-Thalassemia and other hemoglobinopathies in the Saurashtra region of Gujarat, India: analysis of a large population screening program
10.1080/03630269.2022.2142608 · 2022 · External reference
Thalassaemia in China
10.1016/j.blre.2023.101074 · External reference
Molecular spectrum of alpha- and beta-thalassemia among individuals of reproductive age in the Zhuhai region of southern China
10.1111/ijlh.14059 · External reference
Prevalence and genetic analysis of triplicated alpha-globin gene in Ganzhou region using high-throughput sequencing
10.3389/fgene.2023.1267892 · 2023 · External reference
Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia
10.1002/mgg3.680 · 2019 · External reference
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China
10.1186/s40246-023-00520-5 · 2023 · External reference
Epigenetic insights and potential modifiers as therapeutic targets in beta-thalassemia
10.3390/biom11050755 · 2021 · External reference
Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China
10.1002/jcla.22845 · 2019 · External reference
Analysis of genotypic distribution and rare variants of patients with alpha/beta-thalassemia screened in one hospital in Beijing, China
10.1186/s40246-024-00715-4 · External reference
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China
10.1016/j.jgg.2025.04.018 · External reference
Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China
10.1097/md.0000000000013034 · 2018 · External reference
Genotypic spectrum of alpha-thalassemia and beta-thalassemia in newborns of the Li minority in Hainan province, China
10.3389/fped.2023.1139387 · 2023 · External reference
Molecular spectrum of alpha- and beta-Thalassemia among young individuals of marriageable age in Guangdong province, China
10.3967/bes2021.112 · 2021 · External reference
Application of targeted next-generation sequencing for the investigation of thalassemia in a developing country: a single center experience
10.3390/diagnostics13081379 · 2023 · External reference
