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

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  • HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects. (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00277-009-0784-9 (literal)
Alternative label
  • Lacerra G.; Scarano C.; Musollino G.; Testa R.; Prezioso R.; Caruso D.G.; Lagona L.F.; Medulla E.; Friscia M.G.; Gaudiano C.; Carestia C. (2010)
    HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
    in Annals of hematology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Lacerra G.; Scarano C.; Musollino G.; Testa R.; Prezioso R.; Caruso D.G.; Lagona L.F.; Medulla E.; Friscia M.G.; Gaudiano C.; Carestia C. (literal)
Pagina inizio
  • 127 (literal)
Pagina fine
  • 134 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 89 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • PMID: 19609526 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 2 (literal)
Note
  • PubMe (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Genetica e Biofisica \"Adriano Buzzati Traverso\", CNR, Via Pietro Castellino 111, 80131 Naples, Italy I° Laboratorio Analisi Chimico-Cliniche, Ospedali Riuniti, Azienda Ospedaliera-Universitaria, Foggia, Italy Servizio di Talassemia ed Emoglobinopatie, Azienda Ospedaliero-Universitaria Policlinico \"Gaspare Rodolico\", Catania, Italy Servizio di Thalassemia, P.O. Garibaldi, ARNAS \"Garibaldi, S. Luigi-Currò, Ascoli-Tomaselli\", Catania, Italy Centro Trasfusionale e di Microcitemia, Azienda Ospedaliera Ospedali Civili Riuniti, Sciacca (Agrigento), Italy U.O.S. di Microcitemia, Ospedale \"Madonne delle Grazie\", Matera, Italy (literal)
Titolo
  • HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects. (literal)
Abstract
  • The study of the alleles of the delta-globin gene is relevant to the prevention of beta-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and the double heterozygosis for alleles of delta- and beta-globin genes can cause the decrease of the HbA2 up to normal or borderline values. We carried out the characterization of alleles of the delta- and beta-globin genes, restriction fragment length polymorphism (RFLP) haplotype background, and hematologic phenotype in 23 double heterozygotes belonging to 18 unrelated families. A wide heterogeneity of the delta-globin alleles was detected; seven known alleles in trans to the beta-globin gene defects were revealed in 17 out of 18 families, while a new allele in cis to a beta-thalassemia allele was detected in one family. Moreover, the relative frequency of the delta-mutants was quite different from that found among heterozygotes. The new allele delta-cod 5 CCT>ACT, in cis to the allele beta+ thal IVS-I-110 G>A, was found in five carriers of a Sicilian family. The new variant delta5(A2)Pro>Thr, named HbA2-Partinico upon the origin of the family, was detected with high-performance liquid chromatography; it overlapped the HbA2 peak which was partially split. The double in cis heterozygotes had increased percentage of normal and variant HbA2 of comparable size. The variant originated most likely from a new mutational event because it was associated with RFLP haplotype I, commonly found with the beta+ thal IVS-I-110 G>A, even if crossing over or gene conversion cannot be excluded. (literal)
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