References
- Origa R. β-thalassemia. Genet Med. 2017;19(6):609–619.
- Faustino P, Osório-Almeida L, Romão L, et al. Dominantly transmitted β-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide. Blood. 1998;91(2):685–690.
- Thein SL. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable? Br J Haematol. 1999;107(1):12–21.
- Kim JY, Park SS, Yang SH, et al. A Korean family with a dominantly inherited β-thalassemia due to Hb Durham-N.C./Brescia. Hemoglobin. 2001;25(1):79–89.
- Luo HY, Tang W, Eung SH, et al. Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG). J Clin Pathol. 2005;58(10):1110–1112.
- Efremov GD. Dominantly inherited β-thalassemia. Hemoglobin. 2007;31(2):193–207.
- Lahr G, Brintrup J, Over S, et al. Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors. Haematologica. 2007;92(9):1264–1265.
- Ohga S, Ideguchi H, Kato J, et al. Thromboembolic complications in splenectomized patients with dominantly inherited beta-thalassemia. Acta Haematol. 2008;120(1):31–35.
- Yi P, Yu F, Huang S, et al. Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family. Blood Cells Mol Dis. 2008;41(1):56–59.
- Amato A, Cappabianca MP, Perri M, et al. Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia. Hemoglobin. 2012;36(5):480–484.
- Farashi S, Rad F, Shahmohammadi B, et al. First report of a dominantly inherited β-thalassemia caused by a novel elongated β-globin chain. Hemoglobin. 2016;40(2):102–107.
- Sugiyama M, Hamanoue S, Nagai J-I, et al. Hemoglobin β Kanagawa [c.443A>C; p.(Ter148Serext*21)]: a novel β-globin gene mutation causing dominantly inherited β-thalassemia. Pediatr Blood Cancer. 2019;66(9):e27871.
- Su Q, Chen S, Wu L, et al. Severe thalassemia caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-globin Gene. Hemoglobin. 2019;43(1):7–11.
- Rizzuto V, Koopmann TT, Blanco-Álvarez A, et al. Usefulness of NGS for diagnosis of dominant β-thalassemia and unstable hemoglobinopathies in five clinical cases. Front Physiol. 2021;12:628236.