{"id":{"repo_id":"cagliari","oai_identifier":"oai:iris.unica.it:11584/265954"},"canonical_url":"https://search.dev.ndltd.org/etd/cagliari/oai:iris.unica.it:11584/265954","repository":{"repo_id":"cagliari","name":"Università di Cagliari","base_url":"https://iris.unica.it/oai/request"},"display":{"title":"Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.","abstract":"Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance.","abstract_html":"Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance.","abstract_has_math":false,"creators":["ANNI, FRANCO"],"institution":"Università degli Studi di Cagliari","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["GALANELLO, RENZO"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2007,"date_issued":"2007-12-14","date_published":"2007-12-14","updated_at":"2026-07-24T01:29:59Z","subjects":["500K","HbF","talassemia","Settore MED/03 - Genetica Medica"],"languages":["ita"],"rights":["info:eu-repo/semantics/openAccess","license:Non specificato"],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11584/265954","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["GALANELLO, RENZO"]},{"key":"dc:creator","label":"Author","values":["ANNI, FRANCO"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2007-12-14"]},{"key":"dc:publisher","label":"Institution","values":["Università degli Studi di Cagliari"]},{"key":"dc:relation","label":"Dc Relation","values":["numberofpages:32"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["500K","HbF","talassemia","Settore MED/03 - Genetica Medica"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["ita"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess","license:Non specificato"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["http://hdl.handle.net/11584/265954"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance."]},{"key":"dc:title","label":"Title","values":["Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF."]}]}],"canonical_facts":{"dc:contributor":["GALANELLO, RENZO"],"dc:creator":["ANNI, FRANCO"],"dc:date":["2007-12-14"],"dc:description":["Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance."],"dc:identifier":["http://hdl.handle.net/11584/265954"],"dc:language":["ita"],"dc:publisher":["Università degli Studi di Cagliari"],"dc:relation":["numberofpages:32"],"dc:rights":["info:eu-repo/semantics/openAccess","license:Non specificato"],"dc:subject":["500K","HbF","talassemia","Settore MED/03 - Genetica Medica"],"dc:title":["Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF."],"dc:type":["info:eu-repo/semantics/doctoralThesis"]},"updated_at":"2026-07-24T01:29:59Z"}