Molecular and clinical analysis of haemoglobin Lepore in Campania, a region of Southern Italy

References

• Ribeiro ML, Cunha E, Gonçalves P, et al. Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura. Hum Genet. 1997;99:669–673. doi: 10.1007/s004390050426
   PubMed Web of Science ®Google Scholar
• Flavell RA, Kooter JM, De Boer E, et al. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell. 1978;15:25–41. doi: 10.1016/0092-8674(78)90080-6
   PubMed Web of Science ®Google Scholar
• Baglioni C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA. 1962;48:1880–1886. doi: 10.1073/pnas.48.11.1880
   PubMed Web of Science ®Google Scholar
• Baglioni C. Abnormal human hemoglobins. X. a study of hemoglobin Lepore Boston. Biochim Biophys Acta. 1965;97:37–46. doi: 10.1016/0304-4165(65)90267-9
   PubMed Web of Science ®Google Scholar
• Marinucci M, Mavilio F, Massa A, et al. Haemoglobin Lepore trait: haematological and structural studies on the Italian population. Br J Haematol. 1979;42:557–565. doi: 10.1111/j.1365-2141.1979.tb01168.x
   PubMed Web of Science ®Google Scholar
• Quattrin N, Bianchi P, Cimino R, et al. Study on nine families with haemoglobin Lepore in Campania: Hb Lepore trait, heterozygosity for Hb Lepore and beta-thalassaemia, homozygosity for Hb Lepore. Acta Haematol. 1967;37:266–275. doi: 10.1159/000209078
   PubMed Web of Science ®Google Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215. doi: 10.1093/nar/16.3.1215
   PubMed Web of Science ®Google Scholar
• Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet. 1990;336:834–837. doi: 10.1016/0140-6736(90)92338-I
   PubMed Web of Science ®Google Scholar
• Ricchi P, Ammirabile M, Spasiano A, et al. Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients. Eur J Haematol. 2009;82:219–222. doi: 10.1111/j.1600-0609.2008.01195.x
   PubMed Web of Science ®Google Scholar
• Fioretti G, De Angioletti M, Masciangelo F, et al. Origin heterogeneity of Hb Lepore-Boston gene in Italy. Am J Hum Genet. 1992;50:781–786.
   PubMed Web of Science ®Google Scholar
• Kulozik AE, Lyons J, Kohne E, et al. Rapid and non-radioactive prenatal diagnosis of beta thalassaemia and sickle cell disease: application of the Polymerase Chain Reaction (PCR). Br J Haematol. 1988;70:455–458. doi: 10.1111/j.1365-2141.1988.tb02516.x
   PubMed Web of Science ®Google Scholar
• Fullerton SM, Clegg JB. HpaI, HindIII, and BamHI polymorphisms 3’ of the human beta-globin gene can be detected by a single polymerase chain reaction amplification product. Am J Hematol. 1994;47:256. doi: 10.1002/ajh.2830470334
   PubMed Web of Science ®Google Scholar
• Orkin SH, Kazazian, HH Jr, Antonarakis SE, et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982;296:627–631. doi: 10.1038/296627a0
   PubMed Web of Science ®Google Scholar
• Ricchi P, Ammirabile M, Spasiano A, et al. Extramedullary haematopoiesis correlates with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia. Blood Transfus. 2014;1:124–130.
   Google Scholar
• Ricchi P, Ammirabile M, Costantini S, et al. A useful relationship between the presence of extramedullary erythropoeisis and the level of the soluble form of the transferrin receptor in a large cohort of adult patients with thalassemia intermedia: a prospective study. Ann Hematol. 2012;91:905–909. doi: 10.1007/s00277-011-1385-y
   PubMed Web of Science ®Google Scholar
• Pagano L, Carbone V, Fioretti G, et al. Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy. Hemoglobin. 1997;21:1–15. doi: 10.3109/03630269708997506
   PubMed Web of Science ®Google Scholar
• Pagano L, Viola A, Fioretti G, et al. Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy. Haematologica. 2007;92:990–999. doi: 10.3324/haematol.10970
   PubMed Web of Science ®Google Scholar
• Schilirò G, Di Gregorio F, Samperi P, et al. Genetic heterogeneity of beta-thalassemia in southeast Sicily. Am J Hematol. 1995;48:5–11. doi: 10.1002/ajh.2830480103
   PubMed Web of Science ®Google Scholar
• Ramirez F, Mears JG, Nudel U, et al. Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J Clin Invest. 1979;63:736–742. doi: 10.1172/JCI109357
   PubMed Web of Science ®Google Scholar
• Quattrin N, Ventruto V. Hemoglobin Lepore: its significance for thalassemia and clinical manifestations. Blut. 1974;28:326–336. doi: 10.1007/BF01631520
   PubMedGoogle Scholar
• Chaibunruang A, Srivorakun H, Fucharoen S, et al. Interactions of hemoglobin Lepore (deltabeta hybrid hemoglobin) with various hemoglobinopathies: a molecular and hematological characteristics and differential diagnosis. Blood Cells Mol Dis. 2010;44:140–145. doi: 10.1016/j.bcmd.2009.11.008
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Pung-Amritt P, Suwanthon L. Complex interactions of deltabeta hybrid haemoglobin (Hb Lepore-Hollandia) Hb E (beta(26G-->A)) and alpha+ thalassaemia in a Thai family. Eur J Haematol. 2002;68:107–111. doi: 10.1034/j.1600-0609.2002.01637.x
   PubMed Web of Science ®Google Scholar
• Sharma V, Choudhry VP, Saxena R. Association of HbE with Hb Lepore and α triplication in a Bengali family. Clin Chim Acta. 2008;395:175–177. doi: 10.1016/j.cca.2008.04.016
   PubMed Web of Science ®Google Scholar
• Sripichai O, Makarasara W, Munkongdee T, et al. A scoring system for the classification of beta-thalassemia/Hb E disease severity. Am J Hematol. 2008;83:482–484. doi: 10.1002/ajh.21130
   PubMed Web of Science ®Google Scholar
• Efremov DG, Efremov GD, Zisovski N, et al. Variation in clinical severity among patients with Hb Lepore-Boston-beta-thalassaemia is related to the type of beta-thalassaemia. Br J Haematol. 1988;68:351–355. doi: 10.1111/j.1365-2141.1988.tb04213.x
   PubMed Web of Science ®Google Scholar
• Ricchi P, Meloni A, Spasiano A, et al. Extramedullary hematopoiesis is associated with lower cardiac iron loading in chronically transfused thalassemia patients. Am J Hematol. 2015;90:1008–1012. doi: 10.1002/ajh.24139
   PubMed Web of Science ®Google Scholar
• Quattrin N, Luzzatto L, Quattrin S Jr. New clinical and biochemical findings from 235 patients with hemoglobin Lepore. Ann N Y Acad Sci. 1980;344:364–374. doi: 10.1111/j.1749-6632.1980.tb33675.x
   PubMedGoogle Scholar
• Olivieri NF, Rees DC, Ginder GD, et al. Treatment of thalassaemia major with phenylbutyrate and hydroxyurea. Lancet. 1997;350:491–492. doi: 10.1016/S0140-6736(05)63080-2
   PubMed Web of Science ®Google Scholar
• Mirabile E, Testa R, Consalvo C, et al. Association of Hb S/Hb lepore and delta beta-thalassemia/Hb lepore in Sicilian patients: review of the presence of Hb lepore in Sicily. Eur J Haematol. 1995;55:126–130. doi: 10.1111/j.1600-0609.1995.tb01822.x
   PubMed Web of Science ®Google Scholar
• Seward DP, Ware RE, Kinney TR. Hemoglobin sickle-Lepore: report of two siblings and review of the literature. Am J Hematol. 1993;44:192–195. doi: 10.1002/ajh.2830440310
   PubMed Web of Science ®Google Scholar
• Ferrara M, Matarese SM, Francese M, et al. Hematological and molecular analysis of beta-thalassemia and Hb Lepore in Campania, Italy. Hemoglobin. 2001;25:29–34. doi: 10.1081/HEM-100103067
   PubMed Web of Science ®Google Scholar
• Camaschella C, Serra A, Bertero MT, et al. Molecular characterization of Italian chromosomes carrying the Lepore Boston gene. Acta Haematol. 1989;81:136–139. doi: 10.1159/000205545
   PubMed Web of Science ®Google Scholar
• Denjou F, Francavilla M, Anni F, et al. A genetic score for the prediction of beta-thalassemia severity. Haematologica. 2015;100:452–457. doi: 10.3324/haematol.2014.113886
   PubMed Web of Science ®Google Scholar