http://www.cnr.it/ontology/cnr/individuo/prodotto/ID27024
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
- 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
- Pagina fine
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
- 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)
- Prodotto di
- Autore CNR
- Insieme di parole chiave
Incoming links:
- Prodotto
- Autore CNR di
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Insieme di parole chiave di