Associated Papers
[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
Somatic mitochondrial DNA mutations are a source of heterogeneity among primary leukemic cells.
McCastlain K et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.
Liu Y et al.
Haematologica, 2024
Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy
Dündar Yenilmez E et al.
Balkan Medical Journal, 2023
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 2023
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
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation.
Chen X et al.
Hemoglobin, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G).
Viprakasit V et al.
Acta Haematologica, 2014
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.
Borg J et al.
Clinical Biochemistry, 2009
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Moradkhani K et al.
Annals of Hematology, 2009
Molecular basis of alpha-thalassemia in Algeria.
Mesbah-Amroun H et al.
Hemoglobin, 2008
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Lacerra G et al.
Human Mutation, 2004
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