Molecular spectrum of β-Thalassemia mutations in the admixed venezuelan population, and their linkage to β-Globin Gene Haplotypes

Hemoglobin

Volumn 36, Issue 3, 2012, Pages 209-218

  Bravo Urquiola, Martha ^a   Arends, Anabel ^a,d   Gómez, Gilberto ^a   Montilla, Silvia ^a   Gerard, Nathalie ^b   Chacin, Marycarmen ^a   Berbar, Tsouria ^b   García, Odalis ^a   García, Gloria ^a   Velasquez, Dalia ^a   Castillo, Omar ^c   Krishnamoorthy, Rajagopal ^b  

^a HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSIDAD DE CARABOBO   (Venezuela)

^d Instituto Anatomico Jose Izquierdo Caracas   (Venezuela)

Author keywords

Thalassemia ( thal) mutations; Hb S thalassemia

Indexed keywords

ADENOSINE; BETA GLOBIN; CYTOSINE; GUANINE; THYMINE;

AFRICA; ALLELE; ARTICLE; BETA THALASSEMIA; CODON; CONTROLLED STUDY; DELTA THALASSEMIA; DISEASE SEVERITY; DNA DETERMINATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATION RATE; POLYMERASE CHAIN REACTION; SOUTHERN EUROPE; VENEZUELA;

BASE SEQUENCE; BETA-GLOBINS; BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREVALENCE; VENEZUELA;

EID: 84860703899     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2012.674997     Document Type: Article

References (45)

1. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science, 2001.
2. Romer MA. Consideraciones sobre la talasemia con motivo De la comprobación De los primeros casos en Venezuela. Gaceta Médica De Caracas. 1958;66(1):27-33.
3. Arends T. Talasemia en venezolanos nativos. Gaceta Médica De Caracas. 1969;69(7-9):333-344.
4. Arends T. Frecuencia De hemoglobinas anormales en poblaciones humanas suramericanas. Acta Científica Venezolana. 1963;1(1):46-57.
5. Arends T. Estado Actual del estudio De las hemoglobinas anormales en Venezuela. Sangre. 1984;8 (1):1-14.
6. Arends A, Chacín M, Bravo-Urquiola M, et al. Hemoglobinopatias en Venezuela. Interciencia. 2007;32 (8):516-521.
7. Arends T, Castillo O, Garlin G, Maleh J, Anchustegui M, Salazar R. Hemoglobin Alamo [a2β2 19(B1) ASN!ASP] in a Venezuelan family. Hemoglobin. 1987;11(2):135-138.
8. GarcíaO, ChacínM, BravoUrquiolaM, et al.Diagnostico precoz De hemoglobinopatías en sangre capilar De recién nacidos De diferentes centros hospitalarios venezolanos. An Pediatr. 2009;71(4):314-318.
9. Arends T, Arends A. Hematología Geográfica. Enciclopedia Iberoamericana De Hematología. Salamanca: Universidad De Salamanca, España, 1992.
10. Arends T, Gallango ML, Muller A, Gonzalez MM, Perez BO. Tapipa. A Negroid Venezuelan isolate. In: Meyer RJ, Otten CM, Ab del Hameed F, Eds. Evolutionary Models and Studies in Human Diversity. The Hague: Mouton. 1978:201-214.
11. Hardison RC, Chui DH, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin. cse.psu.edu
12. Kazazian HH Jr. The thalassemia syndrome: molecular basis and prenatal diagnosis in 1990. Semin Hematol. 1990;27(3):209-228.
13. Flint J, Harding RM, Cleeg JB, Boyce AJ. Why are some genetic the diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet. 1993;91 (2):91-117.
14. Huisman THJ. Frequencies of common β thalassaemia alleles among different populations: variability in clinical severity. Br J Hematol. 1990;75(4):454-457.
15. Amselem S, Nunes V, Vidaud M, et al. Determination of the spectrum of β thalassemia genes in Spain by use of dot blot analysis of amplified β globin DNA. Am J Genet. 1988;43(1):95-100.
16. Georgiou I, Makis A, Chaidos A, et al. Distribution and frequency of β thalassemia mutation in northewestern and central Greece. Eur J Haematol. 2003;70(2):75-78.
17. Cao A, Gossens M, Pirastu M. β Thalassaemia mutation in Mediterranean population. Br J Haematol. 1989;71(3):309-312.
18. Rosatelli MC, Tuveri T, Scalas MT, et al. Molecular screening and fetal diagnosis of β thalassemia in the Italian population. Hum Genet. 1992;89(6):585-589.
19. Schilir G, Di Gregorio F, Samperi P, et al. Genetic heterogeneity of β thalassemia in Southeast Sicily. Am J Hematol. 1995;48 (1):5-11.
20. Antonarakis SE, Irkin SH, Cheng TC, et al. β-Thalassemia in American Blacks: novel mutations in the TATA box and an acceptor splice sites. Proc Natl Acad Sci USA. 1984;81(4):1154-1158.
21. Orkin SH, Antonarakis SE, Kazazian HH Jr. Base substitution at position -88 in a β-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem. 1984;259 (14):8679-8681.
22. Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi AR. Molecular genetics of β thalassemia in South India reveals raremutations in the β globin gene. JHumGenet. 2004;49(8):408-413.
23. Colah R,Nadkarni A,Gorakshakar A, et al. Impactof β globin genemutatins on the clinical phenotype of β thalassemia in India. Blood Cells Mol Dis. 2004;33(3):153-157.
24. Tan JA, George E, Tan KL, et al. Molecular defects in the β-globin gene identified in different ethnic groups/populations during prenatal diagnosis for β-thalassemia: A Malaysian experience. Clin Exp Med. 2004;4(3):142-147.
25. Bhardwaj U, Zhang YH, Lorey F, McCabe LLE, McCabe ER. Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese β-thalassemia mutations. Am J Hematol. 2005;78(4):249-255.
26. Tan GB, Aw TC, Dunstan RA, Lee SH. Evaluation of high performance liquid chromatography for routine estimation of Haemoglobins A2 and F. J Clin Pathol. 1993;46(9):852-856.
27. Miller SA, Dykes DD, Polesky HF, A simple salting out procedure for extracting DNA from human nucleated cell. Nucleic Acids Res. 1988;16(3):1215.
28. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF. Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C and seven Mediterranean β thalassemia mutations by covalent reverse dot blot analysis: Application to prenatal diagnosis in Sicily. Blood. 1993;81(1):239-242.
29. Old JM. Investigation and diagnosis of hematological defects. In: Rapley R, Walker MR, Eds. Molecular Diagnostics. Oxford: Blackwell Scientific Publications. 1993:169-183.
30. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74(12):5463-5467.
31. Faustino P, Reis AB, Feliciano H, et al. Asymptomatic homozygous deletional β0 thalassemia in an African individual. Am J Hematol. 2002;70(3):232-236.
32. Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66-69.
33. Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β thalasaemic mutation and β globin gene polymorphisms with DNA polymorphisms in the human β globin gene cluster. Nature. 1982;296 (5858):627-631.
34. Arends A, Chacín M, Bravo-Urquiola M, et al. Hemoglobin variants, hematological parameters and β-globin gene cluster haplotypes in an isolated Amerindian group from the Orinoco River Delta. Ann Hum Biol. 2008;35(2):250-255.
35. Villegas A, Ropero P, González FA, Anguita E, Espinós D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin. 2001;25(3):273-283.
36. Gonzalez-Redondo JM, Kutlar A, Kutlar F, et al. Molecular characterization ofHb S(C) β-thalassemia in American Blacks. Am J Hematol. 1991;38(1):9-14.
37. Martins CSB, Ramalho AS, Sonati MF, Goncalves MS, Costa FF. Molecular characterization of β thalassemia heterozygotes in Brazil. J Med Genet. 1993;30(9):797-798.
38. Araújo AS, Silva WA Jr, Leão SAC, et al. A different molecular pattern of β-thalassemia mutations in northeast Brazil. Hemoglobin. 2003;27(4):211-217.
39. Reichert VC, De Castro SM, Wagner SC, De Albuquerque DM, Hutz MH, Leistner-Segal S. Identification of β thalassemia mutations in South Brazilians. Ann Hematol. 2008;87(5):381-384.
40. da Silveira ZM, das Vitórias Barbosa M, De Medeiros Fernandes TA, et al. Characterization of β-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil. Genet Mol Biol. 2011;34(3):425-428.
41. Muñiz A, Martinez G, Lavinha J, Pacheco P. β Thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. Am J Hematol. 2000;64(1):7-14.
42. Romana M, Keclard L, Froger A, Berchel C, Merault G. Spectrum of β-thalassemia mutations in Guadeloupe (French West Indies) and interactions with other hemoglobinopathies. Ann NY Acad Sci. 1998;850:423-425.
43. Roldán A, Gutierrez A, Cygler A, Bouduel M, Sciuccati G, Torres AF. Molecular characterization of β thalassemia genes in an Argentine population. Am J Hematol. 1997;54(3):179-182.
44. Perea JF, Magaña MT, Cobian JG, et al. Molecular spectrum of β thalassemia in the Mexican population. Blood Cells Mol Dis. 2004;33(2):150-152.
45. Rossetti LC, Targovnik HM, Varela V. The molecular basis of β-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin. Haematologica. 2004;88(6):746-747.