Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings

Cao, Antonio; Congiu, Rita; Sollaino, Mc; Desogus, Mf; Demartis, Fr; Loi, Daniela; Cau, Milena; Galanello, Renzo

doi:10.1159/000113873

Cited by 23 publications

(15 citation statements)

References 27 publications

(15 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One aliquot was used for DNA extraction and the other to characterize several blood phenotypes. All red blood indices and hemoglobin patterns have been determined as described (37). In particular, HbF percentages have been determined with an HPLC system (Variant II, Bio-Rad), which is linear for values higher than 0.7%.…”

Section: Methodsmentioning

confidence: 99%

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Uda

Galanello

Sanna

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

583

497

View full text Add to dashboard Cite

␤-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian diseases. The reasons for this are not well understood, although the level of fetal hemoglobin (HbF) is one well characterized ameliorating factor in both of these conditions. To better understand the genetic basis of this heterogeneity, we carried out genome-wide scans with 362,129 common SNPs on 4,305 Sardinians to look for genetic linkage and association with HbF levels, as well as other red blood cell-related traits. Among major variants affecting HbF levels, SNP rs11886868 in the BCL11A gene was strongly associated with this trait (P < 10 ؊35 ). The C allele frequency was significantly higher in Sardinian individuals with elevated HbF levels, detected by screening for ␤-thalassemia, and patients with attenuated forms of ␤-thalassemia vs. those with thalassemia major. We also show that the same BCL11A variant is strongly associated with HbF levels in a large cohort of sickle cell patients. These results indicate that BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the ␤-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders. We expect our findings will help to characterize the molecular mechanisms of fetal globin regulation and could eventually contribute to the development of new therapeutic approaches for ␤-thalassemia and sickle cell anemia.globin gene regulation ͉ polymorphism ͉ sickle cell anemia

show abstract

Section: Methodsmentioning

confidence: 99%

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Uda

Galanello

Sanna

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

583

497

View full text Add to dashboard Cite

show abstract

“…This approach has had notable success and recent reports indicate that the incidence of live births with β-thalassaemia major in parts of Italy, Greece and Cyprus is 10–20% the rate expected in the absence of the prevention programmes [10,11,12]. …”

Section: Resultsmentioning

confidence: 99%

“…The present pilot experience was structured in order to include both genetic information for the parents, and to make a prenatal diagnosis possible in a continuum of health care. As a model already tested successfully in other countries [10,11,12,13] and in agreement with suggestions of Gason et al [14], we suggest the use of high schools, as a first line step to implement genetic educational programmes, offering the target population an informed chance to make decisions about genetic tests immediately or later in life and to avoid negative effects of the diagnosis of severe genetic disorders on the patient and the patient’s family. Genetic information and counselling has been documented to reduce anxiety and depression [15,16,17,18].…”

Section: Resultsmentioning

confidence: 99%

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

et al. 2009

View full text Add to dashboard Cite

In Albania, no definite national screening programme of β-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and screening programme was carried out in one high school with a total of 217 young students from the coastal province of Lushnja in Albania. The pilot programme included a systematic sampling of whole saliva, DNA genomic extraction and the determination of defective β-thalassaemia genes by reverse dot-blot hybridization with 22 probes specific for the Mediterranean populations.Of the 201 subjects tested, 17 (8.4%) students turned out to be carriers of β-thalassaemia mutations and haemoglobin variants. The most common mutation is HbS (c.20A→T) with a frequency of 3.2%, followed by IVS-I-110 (G→A) (c.93-21G→A) substitution identified in 4 out of 402 chromosomes (1%). In the province of Lushnja, the frequency of β-thalassaemia carriers was high. As expected, the results show that identified mutations in this population are similar to those found in the east Mediterranean area, suggesting the same origin for mutant alleles during migratory streams. Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent β-thalassaemia in the region.

show abstract

“…However, in the last decades an increasing number of young couples are not being screened since they are unaware of the disease. This observation led to design a pilot study implementing education on thalassemia early at school and to oVer carrier screening to 13-14-year-old students (Cao et al 2008). The uptake of the pilot study was high across the island, probably due to the interest of the Sardinian population for any initiative to improve the thalassemia prevention program.…”

Section: Introductionmentioning

confidence: 99%

“…In a preliminary survey of students 5 years after the test, 92% retained the information. While there has not been any formal evaluation, the Wrst impression is that there were no negative eVects of the screening (Cao et al 2008). …”

Section: Introductionmentioning

confidence: 99%

Population programs for the detection of couples at risk for severe monogenic genetic diseases

Zlotogora

2009

Hum Genet

View full text Add to dashboard Cite

Population genetic screening programs for carrier detection of severe genetic disorders exist worldwide, mainly for beta-thalassemia. These screening programs are either mandatory or voluntary. In several Arab countries and Iran, the state has made thalassemia carrier detection mandatory, while tests for detecting carriers are required by the religious authorities in Cyprus. In all the existing mandatory genetic screening programs, the couples have to get the information about the tests before marriage, but the decision whether or not to marry is left to them. Voluntary programs exist for instance in several Mediterranean countries for the prevention of thalassemia and for several genetic diseases among Jews. While voluntary programs leave the decision to be screened or not to the individual, a major problem is that in many cases awareness about the existence of screening tests is very sparse. Some programs, for instance in Canada or Australia, therefore provide education about genetic tests and screening at school in order to allow the individuals to be able to make an informed decision about their reproductive choices.

show abstract

Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings

Cited by 23 publications

References 27 publications

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

Population programs for the detection of couples at risk for severe monogenic genetic diseases

Contact Info

Product

Resources

About