Associated Papers
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.
Yasin NM et al.
International Journal of Laboratory Hematology, 2026
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort.
Wei D et al.
Human Genetics, 2026
Two Novel δ-Globin Chain Variants Identified in the Chinese Population.
Su Z et al.
Hemoglobin, 2026
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.
Zhou X et al.
Human Mutation, 2026
A rare -α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple.
Li W et al.
Hematology (amsterdam, Netherlands), 2025
Complex interaction of δ-globin variant HbA2-Famagusta combined with β-globin variant Hb Monroe in cis with the HBB:c.-92C>G mutation: hematological characteristics and molecular diagnostic insights.
Panyasai S et al.
Expert Review of Hematology, 2025
Compound Heterozygous Hb Milledgeville With -α4.2 Thalassemia-A Rare and First Reported Cause of Primary Erythrocytosis in an Indian Family.
Chauhan R et al.
International Journal of Laboratory Hematology, 2025
Identification of maternal Gγ(Aγδβ)0 thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data.
Zhu X et al.
Annals of Medicine, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.
Chen ZX et al.
Transfusion Medicine (oxford, England), 2025
Genetic Analysis of a Patient with β-Thalassemia Major and Homozygous Hb Constant Spring in a Chinese Family.
Wang L et al.
Clinical Laboratory, 2025
Identification of a novel 10.7 kb deletion (Nanning deletion; -ζ10.7 kb) in a Chinese female.
Li Y et al.
Molecular Biology Reports, 2025
Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.
Wang Z et al.
Annals of Hematology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.
Singha K et al.
International Journal of Molecular Sciences, 2025
Molecular Diagnosis and Stability Testing of Hemoglobin Phnom Penh [HBA1: C.353_355dup (p.Phe118_Thr119insIle)] - The First Northern Thai Case.
Wongkuna P et al.
Hemoglobin, 2025
Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.
Yu L et al.
Annals of Hematology, 2025
A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).
Shi Q et al.
Journal of Assisted Reproduction and Genetics, 2025
Genome diversity and signatures of natural selection in mainland Southeast Asia.
He Y et al.
Nature, 2025
Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region.
Ye L et al.
Hemoglobin, 2025
HBA2: C.4delG: A Novel Frameshift Mutation Causing α+-Thalassemia Found in a Chinese Family.
Li W et al.
Hemoglobin, 2025
Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.
Liu H et al.
Annals of Hematology, 2025
Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.
Muangpa S et al.
Hemoglobin, 2025
Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.
Pornprasert S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.
Wei X et al.
Journal of Clinical Laboratory Analysis, 2025
Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong.
Chen ZX et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2025
The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.
Yasin NM et al.
Diagnostics (basel, Switzerland), 2025
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
Li S et al.
Journal of Translational Medicine, 2025
Alpha-globin gene cluster haplotypes and D1S80, D17S5, and TPO VNTR polymorphisms among four ethnic populations from lower northeastern Thailand.
Singsanan S et al.
Scientific Reports, 2025
Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA).
Zhou J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe.
Schnedl WJ et al.
Annals of Hematology, 2025
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2025
Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait.
Shook LM et al.
International Journal of Neonatal Screening, 2025
Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2025
[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].
Lai B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?
Tang H et al.
Archives of Pathology & Laboratory Medicine, 2025
First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (HBA2 c.244delT) in a Chinese Family.
Zhou JY et al.
Hemoglobin, 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
Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.
Tang B et al.
Hemoglobin, 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
Prenatal Diagnosis and Management of Fetal Anemia Caused by Compound Heterozygous Hemoglobin Q-Thailand and Hemoglobin Constant Spring.
Tongsong T et al.
Fetal Diagnosis and Therapy, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Consideration of immunochromatographic strip positive results for screening of alpha-thalassemia in elevated hemoglobin F samples.
Theingi M et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2025
Molecular and hematological characteristics of two different δ-globin promoter variants, δ-276(A>G) and δ-77(T >C) among Thai, Burmese, and Laotian subjects.
Panyasai S et al.
Peerj, 2025
Utilizing loop-mediated isothermal amplification (LAMP) for detecting hemoglobin Constant Spring and hemoglobin Pakse mutations amidst the high prevalence and genetic heterogeneity of thalassemia in Thailand.
Wongprachum K et al.
Peerj, 2025
Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.
Xu J et al.
Frontiers in Genetics, 2025