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Clinical Classification, Screening and Diagnosis for Thalassemia

Hematology/oncology clinics of North America, 2018-04, Vol.32 (2), p.193-211

2018

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Molecular Basis and Genetic Modifiers of Thalassemia

Hematology/oncology clinics of North America, 2018-04, Vol.32 (2), p.177-191

2018

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β-Thalassemia: all about that base, no cutting

Blood, 2023-03, Vol.141 (10), p.1098-1099

2023

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The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants

Clinica chimica acta, 2023-11, Vol.551, p.117619-117619, Article 117619

2023

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Classical meets malignant hematology: a case of acquired εγδβ-thalassemia in clonal hematopoiesis

Haematologica (Roma), 2024-08, Vol.109 (8), p.2745

2024

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Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Genetics in medicine, 2017-09, Vol.19 (9), p.1022-1031

2017

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A case of de novo -α 3.7 thalassaemia and the utility of CATSA for detecting de novo mutations in thalassaemia

British journal of haematology, 2024-07, Vol.205 (1), p.360-363

2024

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A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

The Journal of molecular diagnostics : JMD, 2021-09, Vol.23 (9), p.1195-1204

2021

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Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia

Archives of pathology & laboratory medicine (1976), 2024-07, Vol.148 (7), p.797-804

2024

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Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.93-93, Article 93

2017

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Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq

Hematology (Luxembourg), 2024-12, Vol.29 (1), p.2399356

2024

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The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

Scientific reports, 2017-04, Vol.7 (1), p.920-11, Article 920

2017

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Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

Gene, 2022-05, Vol.825, p.146438-146438, Article 146438

2022

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Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China

Gene, 2017-07, Vol.619, p.71-75

2017

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A novel α Globin Gene Cluster Duplication, αααα 380 Heterozygous β 0 -Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype

Hemoglobin, 2023-11, Vol.47 (2), p.25-30

2023

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Analysis of rare thalassemia genetic variants based on third-generation sequencing

Scientific reports, 2022-06, Vol.12 (1), p.9907-9907, Article 9907

2022

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Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/β-thalassemia prenatal genetic counseling

Blood cells, molecules, & diseases, 2023-11, Vol.103, p.102765-102765, Article 102765

2023

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Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province

Zhonghua yi xue yi chuan xue za zhi, 2024-06, Vol.41 (6), p.708

2024

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Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ) 0 -Thalassemia among Tunisian family

Annals of clinical biochemistry, 2023-03, Vol.60 (2), p.81-85

2023

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Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area, Guangxi

Zhongguo shi yan xue ye xue za zhi, 2024-08, Vol.32 (4), p.1191

2024

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Enhancing thalassemia gene carrier identification in non-anemic populations using artificial intelligence erythrocyte morphology analysis and machine learning

European journal of haematology, 2024-05, Vol.112 (5), p.692-700

2024

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Support Vector Machine-Based Formula for Detecting Suspected α Thalassemia Carriers: A Path toward Universal Screening

International journal of molecular sciences, 2024-06, Vol.25 (12), p.6446

2024

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The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China

PloS one, 2014-02, Vol.9 (2), p.e89855-e89855

2014

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Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China

BMC medical genetics, 2020-02, Vol.21 (1), p.43-43, Article 43

2020

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Misdiagnosis of β-Thalassemia Major Due to Chinese G γ+( A γδβ) 0 -Thalassemia Combined with β 0 -Thalassemia

Hemoglobin, 2024-01, Vol.48 (1), p.24-29

2024

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Clinical Classification, Screening and Diagnosis for Thalassemia

Molecular Basis and Genetic Modifiers of Thalassemia

β-Thalassemia: all about that base, no cutting

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants

Classical meets malignant hematology: a case of acquired εγδβ-thalassemia in clonal hematopoiesis

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

A case of de novo -α 3.7 thalassaemia and the utility of CATSA for detecting de novo mutations in thalassaemia

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq

The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China

A novel α Globin Gene Cluster Duplication, αααα 380 Heterozygous β 0 -Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype

Analysis of rare thalassemia genetic variants based on third-generation sequencing

Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/β-thalassemia prenatal genetic counseling

Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province

Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ) 0 -Thalassemia among Tunisian family

Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area, Guangxi

Enhancing thalassemia gene carrier identification in non-anemic populations using artificial intelligence erythrocyte morphology analysis and machine learning

Support Vector Machine-Based Formula for Detecting Suspected α Thalassemia Carriers: A Path toward Universal Screening

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China

Misdiagnosis of β-Thalassemia Major Due to Chinese G γ+( A γδβ) 0 -Thalassemia Combined with β 0 -Thalassemia

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