Mutational spectrum of delta-globin gene in the Portuguese population

European Journal of Haematology

Volumn 79, Issue 5, 2007, Pages 422-428

  Morgado, Ana ^a   Picanço, Isabel ^a   Gomes, Susana ^a   Miranda, Armandina ^a   Coucelo, Margarida ^a   Seuanes, Filomena ^a   Seixas, Maria Teresa ^a   Romão, Luísa ^a   Faustino, Paula ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

thalassaemia; variant; Gene expression; Hb A2; HBD

Indexed keywords

DELTA GLOBIN;

ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MICROCYTOSIS; MUTATIONAL ANALYSIS; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GLOBINS; HAPLOTYPES; HEMOGLOBIN A2; HEMOGLOBINS; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; LUCIFERASES; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PORTUGAL; PROMOTER REGIONS (GENETICS); TRANSFECTION;

EID: 35048844162     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.00949.x     Document Type: Article

References (23)

1. Moi P, Paglietti E, Sanna A, Brancatin C, Tagarelli A, Galanello R, Cao A, Pirastu M. Delineation of the molecular basis of δ- and normal HB A2 β-thalassaemia. Blood 1988 72 : 530 3.
2. Guiso L, Frogheri L, Pistidda P, Angioni L, Dore F, Pardini S, Longinotti M. Frequency of delta+ 27-thalassaemia in Sardinians. Clin Lab Haematol 1996 18 : 241 4.
3. Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S. Analysis of δ-globin gene mutations in Greek Cypriots. Blood 1993 82 : 1647 51.
4. Tzetis M, Traeger-Synodinos J, Kanavakis E, Metaxotou-Mavromati A, Kattamis C. The molecular basis of normal Hb A2 (type 2) β-thalassaemia in Greece. Hematol Pathol 1994 8 : 25 34.
5. Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M. Delta-thalassaemia in Cyprus. Hemoglobin 2006 30 : 455 62.
6. Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C. Epidemiology of the delta globin allele in Southern Italy shows complex molecular, genetic, and phenotypic features. Hum Mutat 2002 20 : 358 67.
7. Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, Maggio A. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica 2006 91 : 1681 4.
8. Faustino P, Osório-Almeida ML, Barbot J, Espírito-Santo D, Gonçalves J, Romão L, Martins MC, Marques MM, Lavinha J. Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population. Hum Genet 1992 89 : 573 6.
9. Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot population in the UK. Lancet 1990 336 : 834 7.
10. anti3.7 triplication by enzymatic amplification analysis. Br J Haematol 1992 83 : 105 11.
11. Galanello R, Melis MA, Podda A, Monne M, Perseu L, Loudianos G, Cao A, Pirastu M, Piga A. Deletion δ-thalassaemia: the 7.2 kb deletion of Corfu δ-β-thalassaemia in a non-β-thalassaemia chromosome. Blood 1990 75 : 1747 9.
12. Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphism in human β-globin gene cluster. Nature 1982 296 : 627 31.
13. Faustino P, Pacheco P, Loureiro P, Nogueira PJ, Lavinha J. The geographic pattern of β-thalassaemia mutations in the Portuguese population. Br J Haematol 1999 107 : 903 4.
14. Bouva MJ, Harteveld C, Delft P, Giordano P. Known and new δ globin gene mutations and their diagnostic significance. Haematologica 2006 91 : 129 32.
15. 0- thalassaemia functions normally on transient expression in heterologous cells. Blood 1987 70 : 809 13.
16. Matsuda M, Sakamoto N, Fukumaki Y. δ-thalassaemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the δ-globin gene promoter. Blood 1992 80 : 1347 51.
17. Spurdle AB, Krause A, Ramsay M, Jenkins T. The high frequency of the HbB2 variant in the Herero population: a founder effect? Hemoglobin 1994 18 : 317 23.
18. Bennani M, Mombo LE, Chaventre A, Barakat A, Ducrocq R, Nagel RL, Krishnammorthy R. Origin of HB A2′ (HbB2) [delta 16(A13) Gly→Arg (GGC→CGC)]. Hemoglobin 2003 27 : 105 10.
19. De Jong WW, Bernini LF. Hemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant. Nature 1968 219 : 1360 2.
20. Codrington JF, Kutlar F, Harris HF, Wilson JB, Stoming TA, Huisman TH. Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val>Met, an unstable delta chain variant identified by sequence analysis of amplified DNA. Biochim Biophys Acta 1989 1009 : 87 89.
21. Blouquit Y, Thillet J, Beuzard Y, Vernant JP, Dreyfus B. Structural and functional studies of haemoglobin J Calabria: beta64 (E8) Gly leads to Asp. Biochim Biophys Acta 1977 492 : 426 32.
22. Lacan P, Badens C, Lena-Russo D, Merono F, Thuret I, Aubry M, Couprie N, Francina A. Hb Aubagne [beta64(E8)Gly>Ala]: a new unstable beta chain variant found in a French family. Hemoglobin 2002 26 : 163 7.
23. Zurbriggen K, Schmugge M, Schmid M, Durka S, Kleinert P, Kuster T, Heizmann CW, Troxler H. Analysis of minor hemoglobins by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem 2005 51 : 989 96.