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Showing 1 to 9 of 9 for “"talassemia"”.
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Sviluppo di vettori virali per la terapia genica della β−Talassemia
Beta−thalassemia major is a severe congenital anemi for which there is presently no curative therapy other than allogeneic hematopoietic stem cell transplantation. This therapeutic option, however, applies only to the minority of thalassemia patients who have an HLA−matched bone marrow donor. Gene …
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Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica
Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder with a highly variable phenotype, beyond mutations in the causative Beta-globin gene (chr 11). These factors are Alpha-globin genes defects and Fetal Hemoglobin modulators (HBG2:g.- 158C>T …
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Efficacia e sicurezza della terapia ferrochelante combinata in pazienti con talassemia major e grave sovraccarico di ferro intracardiaco
Scopo del nostro studio è stato quello di valutare l’efficacia e la sicurezza della terapia ferrochelante combinata (deferiprone + desferrioxamina) in una coorte di pazienti con grave siderosi del miocardio (T2*cardiaco<10 ms). Vista la differente adesione al trattamento emersa nel corso …
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Análise funcional do gene FOXO3 na indução de hemoglobina fetal em células K562
… com doadores saudáveis (HbAA) e pacientes com β-talassemia (P<0,001). Além disso, a expressão diferencial de FOXO3 foi associada com o desenvolvimento de úlcera de membros inferiores (P<0,005). Foi observada uma tendência (P=0,06) ao aumento da expressão de FOXO3 nos pacientes com 2 ou mais …
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Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
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, …
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FBS0701: un nuovo chelante orale nel trattamento del paziente con sovraccarico trasfusionale di ferro
Background There is still a clinical need for a well-tolerated and safe iron chelator for the treatment of transfusional iron overload. The objective of this study was to assess the safety, tolerability and dose response of FBS0701, a novel oral iron chelator. Design and Methods This phase 2 study …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
Genome wide association studies have identified two quantitative trait loci outside of the β-globin cluster associated with fetal hemoglobin (HbF) levels, number of F cell and β-thalassemia severity: the HBS1L-MYB intergenic region and the BCL11A gene. In order to understand the functional role of …
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Determinanti genetici dell’espressione dell’emoglobina HbF
Background: Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce beta thalassemia severity. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs7482144; BCL11A, rs1427407; HBS1L-MYB, rs9399137), prevalent Sardinian mutations in human Kruppel-like factor 1 …