REFERENCES
- Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233. (http://globin.cse.psu.edu).
- Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541. (http://globin.cse.psu.edu).
- Steinberg MH, Embury SH. α-Thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene. Blood 1986;68(5):985–990.
- Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of the human α-globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275–281.
- Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF. Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Hum Mutat. 1996;7(2):114–122.
- Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 2000;28(21):4364–4375.
- Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041–5045.
- Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. α-Thalassaemia as a result of a novel splice donor site mutation of the α1-globin gene. Br J Haematol. 2000;110(3): 694–698.
- Moradkhani K, Préhu C, Old J, . Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009;88(6):535–543.
- Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101(3):791–800.
- Wajcman H, Traeger-Synodinos J, Papassotiriou I, . Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
- Lorey F, Charoenkwan P, Witkowska HE, . Hb H hydrops foetalis syndrome: a case report and review of the literature. Br J Haematol. 2001;115(1):72–78.