Piero C. Giordano

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We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes,(More)
The increase in haemoglobin (Hb)A(2) level is the most significant parameter in the identification of beta thalassaemia carriers. However, in some cases the level of HbA(2) is not typically elevated and some difficulties may arise in making the diagnosis. For these reasons the quantification of HbA(2) has to be performed with great accuracy and the results(More)
Prevention of Hemoglobinopathies has developed around the world based upon the experience done in pioneering endemic countries and is now facing a new phase in non-endemic areas with a recent immigration history. We describe two situations, taking Latium (central Italy) and The Netherlands as two models for endemic and non-endemic countries both confronted(More)
Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian(More)
BACKGROUND The diagnosis of heart failure (HF) is often difficult and underestimated in very elderly comorbid patients, especially when an echocardiographic evaluation is not available or feasible. AIM to evaluate NT-proBNP values and their correlation with in-hospital mortality in a population of very elderly hospitalized for medical conditions other(More)
Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have(More)
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Hemoglobinopathies (HBP) are the most frequent genetic recessive diseases in human. These conditions results from mutations in either the alpha or beta globin genes, causing structural modifications (abnormal hemoglobins) or expression(More)
We report some observations from our laboratory practice that might be important for the treatment of sickle cell disease (SCD). We describe data from two cases indicating that iron depletion might have a beneficial effect diminishing the formation of HbS in favor of HbF, possibly reducing the severity of the disease. We believe that it would be worthwhile(More)
DGGI The detection and identification of point mutations responsible for common human genetic diseases still represent a major technical problem especially when analysing genes with a large coding region or a heterogeneous spectrum of mutations or both. Before the advent of the polymerase chain reaction (PCR) this problem could be partially circumvented by(More)
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