Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
type: CreativeWork
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.
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.
author: ANNI, FRANCO
language: ita
keywords: 500K, HbF, talassemia, Settore MED/03 - Genetica Medica
date published: 2007-12-14
date modified: 2026-07-24T01:29:59Z
provider: Università di Cagliari
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Università degli Studi di Cagliari

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11584/265954