REFERENCES
- Higgs DR. Molecular mechanisms of α thalassemia. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, MH Steinberg, BG Forget, DR Higgs, RL Nagel. Cambridge University Press, Cambridge 2001; 405–430
- Harteveld CL, Wijermans PW, de Ree JELM, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJKJ, Souverin JHM, Versteegh FGA, Giordano PC. A new Hb Evanston allele [α14(A12)Trp→Arg] found solely, and in the presence of common α-thalassemia deletions, in three independent Asian cases. Hemoglobin 2004; 28(1)1–5
- Morlé F, Lopez B, Henni T, Godet J. α-Thalassemia associated with the deletion of two nucleotides at position −2 and −3 preceding the AUG codon. EMBO J 1988; 4(5)1245–1250
- Safaya S, Rieder RF. Dysfunctional α-globin gene in Hemoglobin H disease in Blacks. A dinucleotide deletion produces a frameshift and a termination codon. J Biol Chem 1988; 263(9)4328–4332
- http://globin.cse.psu.edu, Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. 2002. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 19(3):225–233
- http://globin.cse.psu.edu, Patrinos GP, Giardine B, Riemer C, Miller W, Chui DHK, Anagnou NP, Wajcman H, Hardison RC. 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
- Regtuijt ME, Harteveld CL, Van Delft P, Akkermans N, Giordano PC. Hb Suan-Dok [α109(G16)Leu→ Arg; CTG→CGG (α2)] described in a patient of African ancestry. Hemoglobin 2004; 28(3)173–176
- Weiss I, Cash FE, Coleman MB, Pressley A, Adams JG, Sanguansermsri T, Liebhaber SA, Steinberg MH. Molecular basis for α-thalassemia associated with the structural mutant Hemoglobin Suan-Dok (α2 109Leu→Arg). Blood 1990; 76(12)2630–2636
- Vasseur-Godbillon C, Marden MC, Giordano P, Wajcman H, Baudin-Creuza V. Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndrome. Blood Cells Mol Dis 2006; 37(3)173–179
- Sanguansermsri T, Matragoon S, Changloah L, Flatz G. Hemoglobin Suan-Dok (α2109(G16)Leu→Argβ2): an unstable variant associated with α-thalassemia. Hemoglobin 1979; 3(2&3)161–174
- Khan SN, Butt FI, Riazuddin S, Galanello R. Hb Sallanches [α104(G11)Cys→Tyr]: a rare α2-globin chain variant found in the homozygous state in three members of a Pakistani family. Hemoglobin 2000; 24(1)31–35
- Giordano PC, Zweegman S, Akkermans N, Arkesteijn SG, van Delft P, Versteegh FGA, Wajcman H, Harteveld CL. The first case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant. Hemoglobin 2007; 31(2)179–182