Associated Papers
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
Prevalence of thalassemia-carrier couples and fertility risk assessment.
Wu LS et al.
International Journal of Hematology, 2024
Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia.
Nagahama J et al.
Pediatric Blood & Cancer, 2023
Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.
Zhang Q et al.
Frontiers in Immunology, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT).
Lin XM et al.
Hemoglobin, 2022
Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China.
Luo X et al.
Bmc Medical Genomics, 2021
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Rizzuto V et al.
Frontiers in Physiology, 2021
Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia.
Sugiyama M et al.
Pediatric Blood & Cancer, 2019
Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
Su Q et al.
Hemoglobin, 2019
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