Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes (Articolo in rivista)

Type
Label
  • Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.3109/03630269.2010.511586 (literal)
Alternative label
  • Lacerra G.; Scarano C.; Lagona L.F.; Testa R.; Caruso D.G.; Medulla E.; Friscia M.G.; Mastrullo L.; Caldora M.; Prezioso R.; Gaudiano C.; Magnano C.; Romeo M.A.; Musollino G.; Di Noce F. and Carestia C. (2010)
    Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes
    in Hemoglobin
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Lacerra G.; Scarano C.; Lagona L.F.; Testa R.; Caruso D.G.; Medulla E.; Friscia M.G.; Mastrullo L.; Caldora M.; Prezioso R.; Gaudiano C.; Magnano C.; Romeo M.A.; Musollino G.; Di Noce F. and Carestia C. (literal)
Pagina inizio
  • 407 (literal)
Pagina fine
  • 423 (literal)
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  • 34 (literal)
Rivista
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  • PMID: 20854114 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 5 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Genetica e Biofisica \"Adriano Buzzati-Traverso\", CNR, Napoli, Italia Azienda Ospedaliera-Universitaria, Ospedali Riuniti, I° Laboratorio Analisi Chimico-Cliniche, Foggia, Italia ARNAS \"Garibaldi, S. Luigi-Currò, Ascoli-Tomaselli\", P.O. Garibaldi, Servizio di Thalassemia, Catania, Italia Azienda Policlinico, Servizio di Talassemia ed Emoglobinopatie, Università di Catania, Catania, Italia Azienda Ospedaliera Ospedali Civili Riuniti, Centro Trasfusionale e di Microcitemia, Sciacca, Italia ASL NA1, P.O. San Gennaro, Divisione di Ematologia, Napoli, Italia ASL NA1, P.O. San Giovanni Bosco, Laboratorio Specialistico di Ematologia, Napoli, Italia Ospedale Civile, Centro per la lotta contro le Microcitemie, Matera, Italia (literal)
Titolo
  • Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes (literal)
Abstract
  • The increase of Hb A(2) (?2?2) beyond the upper limit [2.0-2.2/3.3-3.4% of the total hemoglobin (Hb)] is an invaluable tool in the hematological screening of ?-thalassemia (?-thal) carriers. Factors decreasing Hb A(2) percentages can hinder correct diagnosis. In order to analyze the genotype-phenotype relationship, we characterized ?-, ?- and ?-globin genotypes in 190 families where the probands had Hb A(2) values of <=2.0% or were ?-thal heterozygotes with normal Hb A(2) levels. Hb A(2) was measured with cation exchange high performance liquid chromatography (HPLC). Mutations were detected with allele-specific methods or DNA sequencing; two multiplex-ARMS (amplification refractory mutation system) assays were set up. The molecular basis underlying the decrease in Hb A(2) was extremely heterogeneous. Nineteen ?-globin alleles (Hb A(2)-S.N. Garganico was new) were detected; their interaction with ?- or ?-globin alleles (10 and eight, respectively) led us to observe 52 genotypes in 261 carriers. The type of ?-globin mutations, the relative genotypes, the interaction with ?(0)-thal traits, are the most important factors in decreasing the Hb A(2) percentage. These results are extremely useful in addressing the molecular diagnosis of hemoglobinopathies and thalassemias. (literal)
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