References
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(D1):1063–1069 (http://globin.cse.psu.edu).
- Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, Editors. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 2nd ed. New York (NY, USA): Cambridge University Press, 2009.
- Patrinos GP, Kollia P, Papadakis MN. Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat. 2005;26(5):399–412.
- Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
- Weatherall DJ. Thalassemias a global health problem: recent progress toward its control in the developing countries. Ann NY Acad Sci. 2010;1202:17–23.
- Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet. 1981;1(8216):369–371.
- Haj Khelil A, Denden S, Leban N, et al. Hemoglobinopathies in North Africa: a review. Hemoglobin. 2010;34(1):1–23.
- Schilirò G, Mirabile E, Testa R, et al. Presence of hemoglobinopathies in Sicily: a historic perspective. Am J Med Genet. 1997;69(2):200–206.
- Giambona A, Lo Gioco P, Marino M, et al. The great heterogeneity of thalassemia molecular defects in Sicily. Hum Genet. 1995;95(5):526–530.
- Giambona A, Vinciguerra M, Cannata M, et al. The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island. Blood Cells Mol Dis. 2011;46(4):282–287.
- Giambona A, Passarello C, Ruggeri G, et al. Analysis of δ-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica. 2006;91(12):1681–1684.
- Giambelluca SE, Pinzone F, Polizzi MC, et al. Thalassemia registry of Sicily. Epidemiol Prev. 1987;9(30):23–27.
- Giambona A, Passarello C, Renda D, Maggio A. The significance of the Hemoglobin A2 value in screening for hemoglobinopathies. Clin Biochem. 2009;42(18):1786–1796.
- Giambona A, Passarello C, Vinciguerra M, et al. Significance of borderline Hemoglobin A2 values in an Italian population with a high prevalence of β-thalassemia. Haematologica. 2008;93(9):1380–1384.
- Vinciguerra M, Passarello C, Leto F, et al. Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for β-thalassaemia. Eur J Haematol. 2014;92(5):444–449.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
- Liu YT, Old JM, Miles K, et al. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
- Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362.
- Divoka M, Partschova M, Kucerova J, et al. Molecular caracterization of β-thalassemia in the Czech and Slovak populations: Mediterranean, Asian and unique mutations. Hemoglobin. 2016;40(3):156–162.