REFERENCES
- Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001; 2(4)245–255
- Flatz G, Kinderlerer JL, Kilmartin JV, Lehmann H. Haemoglobin Tak: a variant with additional residues at the end of the β-chains. Lancet 1971; 1(7702)732–733
- Ristaldi MS, Pirastu M, Murru S, Casula L, Loudianos G, Cao A, Sciarratta GV, Agosti S, Parodi MI, Leone D, Melessendi C. A spontaneous mutation produced a novel elongated β-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype. Blood 1990; 75(6)1378–1379
- Ivaldi G, David O, Baffico M, Leone D, Baldi M, Parodi MI, Scime-Degani V, Piga A, Scagni P, Rabino-Massa E, Ricco G. Hb Trento: an elongated C-terminal β chain due to a new frameshift mutation [β144 (–A)]. Hemoglobin 2003; 27(1)15–25
- Bunn HF, Forget BG, Ranney HM. Hemoglobinopathies. Major Probl Intern Med 1977; 12: 1–291
- Bunn HF, Schmidt GJ, Haney DN, Dluhy RG. Hemoglobin Cranston, an unstable variant having an elongated β chain due to nonhomologous crossover between two normal β chain genes. Proc Natl Acad Sci USA 1975; 72(9)3609–3613
- Delanoe-Garin J, Blouquit Y, Arous N, Kister J, Poyart C, North ML, Bardakdjian J, Lacombe C, Rosa J, Galacteros F. Hemoglobin Saverne: a new variant with elongated β chains: structural and functional properties. Hemoglobin 1988; 12(4)337–352
- Weinstein BI, Erramouspe B, Albuquerque DM, Oliveira DM, Kimura EM, Costa FF, Sonati MF. Hb Florida: a novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype. Am J Hematol 2006; 81(5)358–360
- Plaseska D, Dimovski AJ, Wilson JB, Webber BB, Hume HA, Huisman THJ. Hemoglobin Montreal: a new variant with an extended β chain due to a deletion of Asp, Gly, Leu at positions 73, 74, and 75, and an insertion of Ala, Arg, Cys, Gln at the same location. Blood 1991; 77(1)178–181
- Stamatoyannopoulos G, Yoshida A, Adamson J, Heinenberg S. Hemoglobin Rainier (β145 Tyrosine→Histidine): alkali-resistant hemoglobin with increased oxygen affinity. Science 1968; 159(3816)741–743
- Carbone V, Salzano AM, Pagano L, Viola A, Buffardi S, De Rosa C, Pucci P. Hb Rainier [β145(HC2)Tyr→Cys] in Italy. Characterization of the amino acid substitution and the DNA mutation. Hemoglobin 1999; 23(2)111–124
- Perutz MF, Shih DT, Williamson D. The chloride effect in human haemoglobin. A new kind of allosteric mechanism. J Mol Biol1994, 239(4)555–560