α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro

Autor: Emilia Medulla, Gabriele Qualtieri, Angela Flagiello, Carlo Gaudiano, Maria Grazia Bisconte, Antonello Merlino, Romeo Prezioso, Giuseppina Lacerra, Piero Pucci, Gennaro Musollino, Mercedes Caldora, Giovanna Cardiero, Gaetana La Porta, Laura F. Lagona

Publikováno v: PLoS ONE
PLoS ONE, Vol 10, Iss 3, p e0115738 (2015)
PloS one 10 (2015): 1–18. doi:10.1371/journal.pone.0115738
info:cnr-pdr/source/autori:Bisconte Maria Grazia(1), Caldora Mercedes(2), Musollino Gennaro(3), Cardiero Giovanna(3), Flagiello Angela(4), La Porta Gaetana(1), Lagona Laura(5), Prezioso Romeo(3), Qualtieri Gabriele(1), Gaudiano Carlo(6), Medulla Emilia(5), Merlino Antonello(7), Pucci Piero(4), Lacerra Giuseppina(3)/titolo:alpha-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or alpha1 Cod 108(G15)Thr->Asn and Hb Policoro or alpha2 Cod 124(H7)Ser->Pro./doi:10.1371%2Fjournal.pone.0115738/rivista:PloS one/anno:2015/pagina_da:1/pagina_a:18/intervallo_pagine:1–18/volume:10

We identified two new variants in the third exon of the alpha-globin gene in families from southern Italy: the Hb Rogliano, alpha1 cod108 ACC>AAC or alpha1[alpha108(G15)Thr->Asn] and the Hb Policoro, alpha2 cod124 TCC>CCC or alpha2[alpha124(H7)Ser->P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664e9308cc1c0ed7eeffd7b08cef1a30
https://pubmed.ncbi.nlm.nih.gov/25730315

HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene 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

Autor: Laura F. Lagona, Carlo Gaudiano, Clementina Carestia, Giuseppina Lacerra, Daniela Caruso, Maria G. Friscia, Clelia Scarano, Romeo Prezioso, Emilia Medulla, Gennaro Musollino, R. Testa

Publikováno v: Annals of Hematology
Annals of Hematology, Springer Verlag, 2009, 89 (2), pp.127-134. ⟨10.1007/s00277-009-0784-9⟩

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 heterozygosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1cf72da140933b689e8b668d4ac270
https://hal.archives-ouvertes.fr/hal-00535074/document

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area

Autor: R. Testa, Clelia Scarano, Laura F. Lagona, Lucia Nota, Francesca Di Noce, Mercedes Caldora, Emilia Medulla, Romeo Prezioso, Daniela Caruso, Lucia Mastrullo, Giuseppina Lacerra, Maria Antonietta Romeo, Gennaro Musollino, Clementina Carestia, Carlo Gaudiano, Maria G. Friscia, Carmelo Magnano, C. Ciaccio

Publikováno v: Gene (Amst.) 410 (2008): 129–138. doi:10.1016/j.gene.2007.12.004
info:cnr-pdr/source/autori:Lacerra G.; Musollino G.; Scarano C.; Lagona L.F.; Caruso D.G.; Testa R.; Prezioso R.; Di Noce F.; Medulla E.; Friscia M.G.; Mastrullo L.; Caldora M.; Nota L.; Gaudiano C.; Magnano C.; Ciaccio C.; Romeo M.A.; Carestia C./titolo:Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area/doi:10.1016%2Fj.gene.2007.12.004/rivista:Gene (Amst.)/anno:2008/pagina_da:129/pagina_a:138/intervallo_pagine:129–138/volume:410

The human delta-globin gene (HBD) is one of the beta-like globin genes expressed in adults. In the Mediterranean countries the carriers of delta-thalassemia defects or Hb A2-variants are >1% and about 40/70 known alleles have been found in families w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e6a47ddcae3fff0945d60ed5b6a640
https://pubmed.ncbi.nlm.nih.gov/18221842

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

Autor: Lacerra, Giuseppina, Scarano, Clelia, Musollino, Gennaro, Testa, Rosario, Prezioso, Romeo, Caruso, Daniela, Lagona, Laura F., Medulla, Emilia, Friscia, Maria G., Gaudiano, Carlo, Carestia, Clementina

Publikováno v: Annals of Hematology; Feb2010, Vol. 89 Issue 2, p127-134, 8p, 1 Diagram, 2 Charts