Associated Papers
First Report of Hb Oslo [HBB:c.127T>A; β42(CD1)Phe→Ile] from India and its Novel Compound Heterozygous Combination with IVS1-5 G>C [HBB:c.92+ 5G> C] Leading To β-Thalassemia Major.
Malik D et al.
Cell Biochemistry and Biophysics, 2026
Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.
Liu Y et al.
Biomedical Reports, 2026
Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling.
Singh K et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026
Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.
Nguyen HT et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2026
Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB: C.24G > C (Glu7Asp).
Zhuang Q et al.
Hemoglobin, 2025
Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.
Wei W et al.
Bmc Medicine, 2025
Impact of transferrin levels on iron accumulation in transfusion-dependent beta-thalassemia: A genotype-specific analysis.
Liang Y et al.
Journal of Medical Biochemistry, 2025
Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.
Aziz NA et al.
Medicine, 2025
Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.
Zhang Y et al.
Clinical Genetics, 2025
A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.
Song M et al.
Blood Advances, 2025
Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand.
Shambhavi et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
Characterisation of β-thalassemia mutations in a tertiary care referral hospital in southern India- A descriptive study.
Kuppusamy D et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.
Li Y et al.
Molecular Biology Reports, 2025
Assessing oxidative stress in foetuses with β-globin gene mutations.
Nayak S et al.
The Indian Journal of Medical Research, 2025
Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.
Qian H et al.
Scientific Reports, 2025
First clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
Zhuang J et al.
Annals of Hematology, 2025
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Zeng GK et al.
Hemoglobin, 2025
Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.
Tepakhan W et al.
Hemoglobin, 2025
Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities.
Lertsakulbunlue S et al.
Anemia, 2025
Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.
Xu J et al.
Frontiers in Genetics, 2025
Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China.
Zheng J et al.
Genetics Research, 2025
High prevalence and molecular spectrum of β-thalassemia trait in Haripur and Abbottabad districts of Pakistan: implications for regional carrier screening programs.
Haq EU et al.
The Egyptian Journal of Medical Human Genetics, 2025
The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.
Cao YB et al.
Hematology (amsterdam, Netherlands), 2024
Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.
Kwiatkowski JL et al.
Lancet (london, England), 2024
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
Traisrisilp K et al.
Obstetric Medicine, 2024
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.
Tepakhan W et al.
Scientific Reports, 2024
Abnormal hemoglobin anti-Lepore Hong Kong compound with β0-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia.
Bao X et al.
Scientific Reports, 2024
Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia.
Mamata M et al.
Hemoglobin, 2024
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Bao X et al.
Human Genomics, 2023
Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.
Lou J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia.
'Ulya NM et al.
Hemoglobin, 2023
Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.
Daniels DE et al.
Nature Communications, 2023
Spectrum Of HBB Gene Variants And Major Endocrine Complications In Thalassemia Patients Of Pakistan.
Ghafoor MB et al.
Jpma. the Journal of the Pakistan Medical Association, 2023
Efficient repair of human genetic defect by CRISPR/Cas9-mediated interlocus gene conversion.
Yang F et al.
Life Medicine, 2023
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.
Yang T et al.
Human Genomics, 2023
Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China.
Wang X et al.
International Journal of Laboratory Hematology, 2023
α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0/βCD17‑thalassemia mutation: A case report.
Qian H et al.
Molecular Medicine Reports, 2023
Hematological and genetic profiles of persons with co-inherited heterozygous β-thalassemia and supernumerary α-globin genes.
Sundaresan DD et al.
European Journal of Haematology, 2023
Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India.
Kumar R et al.
Hemoglobin, 2023
Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.
Bao X et al.
Human Genomics, 2023
Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.
Zulkeflee RH et al.
Diagnostics (basel, Switzerland), 2023
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.
Saad HKM et al.
Diagnostics (basel, Switzerland), 2023
To Study the β-Globin Haplotype Pattern of Descent of a Set of Linked Alleles Occurring on the Same Chromosome in the Northern Province of India.
Nigam N et al.
Cureus, 2023
A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.
Zhuang J et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.
Kabir T et al.
Hemoglobin, 2023
Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis.
Jia W et al.
Plos One, 2023
Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.
Wu J et al.
Hematology (amsterdam, Netherlands), 2022