HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene in cis to the β+ thal IVS-I-110 G>A, and the heterogeneity of δ-globin alleles in double heterozygotes for β- and δ-globin gene defects

Annals of Hematology

Volumn 89, Issue 2, 2010, Pages 127-134

  Lacerra, Giuseppina ^a   Scarano, Clelia ^b   Musollino, Gennaro ^a   Testa, Rosario ^c   Prezioso, Romeo ^a   Caruso, Daniela G ^c   Lagona, Laura F ^d   Medulla, Emilia ^d   Friscia, Maria G ^e   Gaudiano, Carlo ^f   Carestia, Clementina ^a  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b OSPEDALI RIUNITI   (Italy)

^c Policlinico Gaspare Rodolico   (Italy)

^d ARNAS Garibaldi Nesima   (Italy)

^e Centro Trasfusionale e di Microcitemia   (Italy)

^f MADONNA DELLE GRAZIE HOSPITAL   (Italy)

Author keywords

thalassemia carriers screening; thal cod 15 TGC>TAG; + thal AATAAA>AATTAA; HB HPLC; HbA2 variants; HbA2 Partinico

Indexed keywords

ADENINE; AMINO ACID DERIVATIVE; BETA GLOBIN; DELTA GLOBIN; GUANINE; HEMOGLOBIN A2; IRON; MUTANT PROTEIN; PARTINICO; PROLINE; PROTEIN; PROTEIN IVS I 110; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BETA THALASSEMIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE CONVERSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; MICROCYTOSIS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; AGED; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; AGED; ALLELES; BETA-GLOBINS; BETA-THALASSEMIA; CHILD; DELTA-GLOBINS; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; YOUNG ADULT;

EID: 74049125019     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0784-9     Document Type: Article

References (23)

1. Lacerra G, Musollino G, Scarano C, Lagona LF, Caruso DG, Testa R, Prezioso R, Di Noce F, Medulla E, Friscia MG, Mastrullo L, Caldora M, Nota L, Gaudiano C, Magnano C, Ciaccio C, Romeo MA, Carestia C (2008) Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area. Gene 410 (1):129-138.
2. Weatherall DJ, Clegg JB (2001) The thalassaemia syndromes, 4th edn. Blackwell Science, Oxford.
3. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC (2004) Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 32:D537-D541 Database issue; http://globin.cse.psu. edu/hbvar/menu.html.
4. Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, Maggio A (2006) Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica 91(12):1681-1684.
5. Giambona A, Passarello C, Vinciguerra M, Li Muli R, Teresi P, Anzà M, Ruggeri G, Renda D, Maggio A (2008) Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. Haematologica 93(9):1380-1384.
6. Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P (2007) Mutational spectrum of delta-globin gene in the Portuguese population. Eur J Haematol 79(5):422-428.
7. Trifillis P, Ioannou P, Schwartz E, Surrey S (1991) Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood 78(1):3298-3305.
8. Tzetis M, Traeger-Synodinos J, Kanavakis E, Metaxotou-Mavromati A, Kattamis C (1994) The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece. Hematol Pathol 8(1-2):25-34.
9. Moi P, Loudianos G, Lavinha J, Murru S, Cossu P, Casu R, Oggiano L, Longinotti M, Cao A, Pirastu M (1992) Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3′ to the delta-globin gene. Blood 79(2):512-516.
10. De Angioletti M, Lacerra G, Sabato V, Carestia C (2004) Beta+45 G→C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence. Br J Haematol 124(2):224-231.
11. Chong SS, Boehm CD, Higgs DR, Cutting GR (2000) Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 95(1):360-362.
12. Lacerra G, Musollino G, Di Noce F, Prezioso R, Carestia C (2007) Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system. Haematologica 92(2):254-255.
13. Lacerra G, Testa R, De Angioletti M, Schilirò G, Carestia C (2003) Hb Bronte or alpha93(FG5)Val→Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)- thalassemia phenotype. Hemoglobin 27(3):149-159.
14. Kulozik AE, Lyons J, Kohne E, Bartram CR, Kleihauer E (1988) Rapid and non-radioactive prenatal diagnosis of beta thalassaemia and sickle cell disease: application of the polymerase chain reaction (PCR). Br J Haematol 70(4):455-458.
15. Fullerton SM, Clegg JB (1994) 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 47(3):256.
16. Sutton M, Bouhassira EE, Nagel RL (1989) Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol 32(1):66-69.
17. Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ (1982) Linkage of betathalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296(5858):627-631.
18. Cao A, Gossens M, Pirastu M (1989) β-Thalassemia mutations in Mediterranean populations. Br J Haematol 71(3):309-312.
19. Geourjon C, Deléage G (1995) SOPMA: significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments. Comput Appl Biosci 11 (6):681-684 http://www.expasy.org.
20. Bissé E, Schauber C, Zorn N, Epting T, Eigel A, Van Dorsselaer A, Wieland H, Kister J, Kiger L (2003) Hemoglobin Görwihl [alpha2beta(2)5(A2) Pro→Ala], an electrophoretically silent variant with impaired glycation. Clin Chem 49(1):137-143.
21. Langdown JV, Williamson D, Beresford CH, Gibb I, Taylor R, Deacon-Smith R (1994) A new beta chain variant, Hb Tyne [beta 5(A2)Pro→Ser]. Hemoglobin 18(4-5):333-336.
22. Wilson CI, Cave RJ, Lehmann H, Close M, Imai K (1984) Haemoglobin Warwickshire (beta 5 [A2] Pro→Arg). A possible 'fine tuning' of 2, 3-DPG affinity by beta 5 Pro. FEBS Lett 176 (2):331-333.
23. Lippi G, Carta MR, Salvagno GL, Bellorio F, Montagnana M, Soffiati G, Guidi GC (2008) Separation of haemoglobin HbE and HbA by the fully automated, high-pressure liquid chromatography Tosoh HLC-723 G7 analyzer. Int J Lab Hematol 30 (5):432-436.