Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

1981 Thein, 1998, β-thalassaemia, vol 11, 91–126 Bernini, 1998, α-thalassaemia, vol. 11, 53 Giordano, 1998, A case of non-β-globin gene linked β-thalassaemia in a Dutch family with two additionaland α-gene defects: the common -α3.7 deletion and the rare IVS-I-116 (A→G) acceptor splice site mutation, Br. J. Haematol., 103, 370, 10.1046/j.1365-2141.1998.00999.x Piomelli, 1969, The haematological effects of glucose-6-phosphate dehydrogenase deficiency and thalassaemia trait: interaction between the two genes at the phenotype level, Br. J. Haematol., 16, 537, 10.1111/j.1365-2141.1969.tb00435.x Aksoy, 1968, Combination of hereditary elliptocytosis and heterozygous beta-thalassaemia: a family study, J. Med. Genet., 5, 298, 10.1136/jmg.5.4.298 Swarup-Mitra, 1969, Haemolytic anaemia due to interaction of genes for spherocytosis and beta-thalassaemia, Indian J. Med. Res., 57, 1892 Henni, 1985, Alpha globin gene triplication in severe heterozygous beta thalassemia, Acta. Haematol., 74, 236, 10.1159/000206230 Oron, 1994, Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia, Br. J. Haematol., 86, 377, 10.1111/j.1365-2141.1994.tb04743.x Premawardhena, 2005, Hemoglobin E-beta-thalassemia: progress report from the International Study Group, Ann. N. Y. Acad. Sci., 1054, 33, 10.1196/annals.1345.005 Liu, 2000, Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions, Br. J. Haematol., 108, 295, 10.1046/j.1365-2141.2000.01870.x Chong, 2000, Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia, Blood, 95, 360, 10.1182/blood.V95.1.360 Harteveld, 2003, Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects, Am. J. Hematol., 74, 99, 10.1002/ajh.10385 Harteveld, 2005, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification, J. Med. Genet., 42, 922, 10.1136/jmg.2005.033597 Schouten, 2002, Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, Nucleic. Acids Res., 30, e57, 10.1093/nar/gnf056 Taylor, 2003, Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA, Hum. Mutat., 22, 428, 10.1002/humu.10291 Sellner, 2004, MLPA and MAPH: new techniques for detection of gene deletions, Hum. Mutat., 23, 413, 10.1002/humu.20035 Dauwerse, 1992, Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations, Blood, 79, 1299, 10.1182/blood.V79.5.1299.1299 Goossens, 1980, Triplicated α-globin loci in humans, Proc. Natl. Acad. Sci., 77, 518, 10.1073/pnas.77.1.518 Traeger-Synodinos, 1997, The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies, Br. J. Haematol., 97, 506 Villegas, 1997, Association of alpha and beta thalassemia with alpha gene triplication in one family, Med. Clin. (Barc)., 24;108, 781 Bianco, 1997, Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication, Haematologica, 82, 513 Altay, 1998, Effect of alpha-gene numbers on the expression of beta-thalassemia intermedia, beta-thalassemia and (delta beta)0-thalassemia traits, Hum. Hered., 48, 121, 10.1159/000022792 Ma, 2001, Clinical phenotype of triplicated alpha-globin genes and heterozygosity for beta0-thalassemia in Chinese subjects, Int. J. Mol. Med., 8, 171 Agarwal, 2002, Thalassemia intermedia: heterozygous beta-thalassemia and co-inheritance of an a gene triplication, Hemoglobin, 26, 321, 10.1081/HEM-120015038 Kimura, 2003, Thalassemia intermedia as a result of heterozygosis for beta 0 -thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient, Braz. J. Med. Biol. Res., 36, 699, 10.1590/S0100-879X2003000600003 Giordano, 1998, Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd 121 (G→T) mutation., Ann. Hematol., 77, 249, 10.1007/s002770050453 Beris, 1999, Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type, Br. J. Haematol., 105, 1074, 10.1046/j.1365-2141.1999.01451.x Cook, 2006, Quintuple alpha-globin gene: a novel allele in a Sudanese man, Hemoglobin., 30, 51, 10.1080/03630260500454436