REFERENCES
- Harteveld CL, Higgs DR. α-Thalassaemia. Orphanet J Rare Dis. 2010;5:13–21.
- 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).
- Martin G, Villegas A, González FA, . A novel mutation of the α2-globin causing α+-thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2). Hemoglobin. 2005;29(2):113–117.
- Garçon L, Iolascon A, Pissard S, . A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain. Hemoglobin. 2010;34(6):576–581.
- Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Hematology. 2000;95(1):360–362.
- Peres MJ, Romão L, Carreiro H, . Molecular basis of α-thalassemia in Portugal. Hemoglobin. 1995;19(6):343–352.
- Gomes S, Picanço I, Miranda A, . Hb Evora [α2-35 (B16), Ser→Pro], a novel hemoglobin variant associated with an α-thalassemia phenotype. Haematologica. 2007;92(2):252–253.
- Bento C, Oliveira AC, Neves J, . Hb Iberia [α104(G11)Cys→Arg, TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases. Hemoglobin. 2012;36(6),517–525.
- Harteveld CL, Voskamp A, Phylipsen M, . Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.