https://orcid.org/0000-0001-8440-865X
References
- Traeger-Synodinos J, Harteveld CL, Old JM, et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet. 2015;23(4):426–437.
- Ryan K, Bain BJ, Worthington D, et al. Significant haemoglobinopathies: guidelines for screening and diagnosis. Br J Haematol. 2010;149(1):35–49.
- Mosca A, Paleari R, Ivaldi G, et al. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol. 2009;62(1):13–17.
- Giordano PC. Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls. Int J Lab Hematol. 2013;35(5):465–479.
- Ivaldi G, Barberio G, Harteveld C, et al. Hb A2 measurements in beta-thalassemia and in other conditions. Thalassemia Rep. 2014;4(2):45–48.
- Giambona A, Passarello C, Vinciguerra M, et al. Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. Haematologica. 2008;93(9):1380–1384.
- 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/hbvar/).
- Giambona A, Passarello C, Ruggeri G, et al. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica. 2006;91(12):1681–1684.
- Arnone A, Thillet J, Rosa J. The structure of hemoglobin Creteil (beta 89 Ser replaced by Asn) is similar to that of abnormal human hemoglobins having sequence changes at Tyr 145 beta. J Biol Chem. 1981;256(16):8545–8552.
- Poyart C, Bursaux E, Teisseire B, et al. Hemoglobin Creteil: oxygen transport by erythrocytes. In-vitro and in-vivo studies in a high oxygen-affinity mutant hemoglobin. Ann Intern Med. 1978;88(6):758–763.
- Morgado A, Picanço I, Gomes S, et al. Mutational spectrum of delta-globin gene in the Portuguese population. Eur J Haematol. 2007;79(5):422–428.
- Pavlou E, Phylactides M, Kyrri A, et al. δ-Thalassemia in Cyprus. Hemoglobin. 2006;30(4):455–462.
- De Angioletti M, Lacerra G, Gaudiano C, et al. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. Hum Mutat. 2002;20(5):358–367.
- Trifillis P, Ioannou P, Schwartz E, et al. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991;78(12):3298–3305.
- Oggiano L, Guiso L, Frogheri L, et al. A novel Mediterranean “delta beta-thalassemia” determinant containing the delta(+) 27 and beta(0) 39 point mutations in cis. Am J Hematol. 1994;45(1):81–84.
- Codrington JF, Li HW, Kutlar F, et al. Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant. Blood. 1990;76(6):1246–1249.
- Pearson HA, Moore MM. Human hemoglobin gene linkage: report of a family with Hemoglobin B2, Hemoglobin S, and beta thalassemia, including a probable crossover between thalassemia and delta loci. Am J Hum Genet. 1965;17(2):125–132.