Associated Papers
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 2025
A Rare Hemoglobin Variant: Hemoglobin G-Siriraj, in a Moroccan Patient.
Ousguine A et al.
Clinical Laboratory, 2025
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK 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
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.
Chen L et al.
Hematology (amsterdam, Netherlands), 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
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F et al.
Frontiers in Genetics, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease.
Guan ZY et al.
Hemoglobin, 2022
Detection of hemoglobin H disease by long molecule sequencing.
Li Y et al.
Journal of Clinical Laboratory Analysis, 2022
A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis].
Liao J et al.
Hemoglobin, 2022
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.
Lam TT et al.
Hemoglobin, 2022
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.
Luo H et al.
Frontiers in Genetics, 2022
Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate.
Vinciguerra M et al.
International Journal of Laboratory Hematology, 2018
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Detection of functional polymorphisms influencing the promoter activity of the SAA2 gene and their association with milk production traits in Chinese Holstein cows.
Yang S et al.
Animal Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
Lin M et al.
Plos One, 2013
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study.
Fettah A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning.
Tabone T et al.
Nucleic Acids Research, 2006
beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.
Oner R et al.
British Journal of Haematology, 2001
Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.
Colaco S et al.
Mutation Research. Reviews in Mutation Research, 0