[Health information in the era of social network: a nursing analysis]. / Le informazioni sanitarie nell'era dei Social network: una analisi infermieristica.

INTRODUCTION: Web and social networks play a crucial role in health information seeking and health literacy levels. In the last ten years people are able to access a wide range of health information from a plethora of sources. People who live in the city experience an increased stimulus level related to the density of people and the overload of information inputs. METHODS: We undertook a census analysis of groups on a social network to identify the importance of health information for the all population and with the aim to evaluate the intersection between digital health information seeking, social networks, and social capital. RESULTS: This study shows that there is a relevant growing number of groups health-related, especially connected to chronic disease and another aspect relevant to the daily health of the population. The study identifies two aspect in all groups: one aspect is connected to share information about treatment and medication and other aspect connected to the relationship in terms of sharing experiences and emotional support. CONCLUSION: Social networks have a relevant impact on health and allow millions of users fast, easy, and concise access to the most important and useful medical information. More research should be conducted to enhance the understanding of the correct pathway to follow to align and measures outcomes of understanding health information and health literacy, use of social networks and the key role of the environment, infrastructure, algorithms and construction in building social capital of individuals and society. It's necessary avoid to think that people live in many separate islands, instead in the same interconnected arena with health professionals that have to work for a better understanding of digital and social networks.

A Clinical Update of the Hb Siirt [ß27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.

We report a clinical update of the hemoglobin (Hb) variant [ß27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα anti 3.7 triplication. Her initial moderate ß-thalassemia intermedia (ß-TI) phenotype worsened with time, causing the patient to become a transfusion-dependent subject at the age of ∼40 years. Subsequent molecular characterization of both parents revealed that the Hb Siirt variant was inherited by the mother, while the other two globin alterations (HBB: c.17_18delCT and αααanti 3.7 triplication) were genetically transmitted by the father. The latter remained a carrier of a mild ß-TI phenotype throughout his life, at least until the age of 65 years. We hypothesize that the worsened clinical conditions in the daughter were due to the additional, maternally inherited Hb Siirt variant. However, protein 3D conformational analysis did not seem to reveal substantial overall structural changes. Among the other three described variants [Hb Volga (HBB: c.83C>A), Hb Knossos (HBB: c.82 G>T), Hb Grange-Blanche (HBB: c.83C>T] that are due to nucleotide substitutions at codon 27 of the ß-globin gene; only Hb Knossos causes a ß+-thalassemia (ß+-thal) phenotype.

Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy.

To reduce the incidence of ß-thalassaemia major and other severe haemoglobin-related disorders by the early identification of healthy carriers, the Centro Studi Microcitemie Roma has been organising since 1975 a prevention programme in Latium, an Italian central region. This programme entails two different types of carrier screening on a voluntary basis: a universal screening offered to secondary school students and a screening offered to young adults. In 36 years of scholastic screening (from 1975 until 2011), 1,466,100 students have been examined and 26,786 (1.8 %) carriers of non-α thalassaemia have been identified. In the extra-scholastic screening, 388,690 adult subjects (including the carriers' relatives) have been examined and a total of 38,457 (9.9 %) carriers of non-α thalassaemia have been detected. These results demonstrate that the precocious identification of healthy carriers allowed the identification of at-risk couples and reduced to zero the birth of affected babies in the Latium native population. This programme does not involve huge resources and is relatively inexpensive and, as such, it is essential to be offered to the total Latium scholastic and extra-scholastic population, which is epidemiologically changing due to migratory fluxes from countries in which haemoglobin disorders are common.

Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the ß-globin gene causing dominantly inherited ß-thalassemia intermedia.

We report a novel frameshift mutation in exon 3 of the ß-globin gene, that, in the heterozygous state, leads to a ß-thalassemia intermedia (ß-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to the deletion of the first nucleotide (-A) at codon 120, results in a ß-globin chain that is elongated to 156 amino acid residues. These highly unstable abnormal chains precipitate in the erythroblasts as inclusion bodies, thus causing inefficient erythropoiesis and ultimately resulting in the observed dominant clinical phenotype.

Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

Factors regulating Hb F synthesis in thalassemic diseases.

BACKGROUND: The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype, determining the Hb F production. We have tried to find out if there are relations between total Hb and Hb F, between erythropoietin (Epo) and Hb F, between Hb F and point mutations of the gamma gene promoters. MATERIALS AND METHODS: Hematologic parameters, iron status, alpha/non-alpha globin ratio, Epo level, and thalassemic defects of the alpha-, beta-, and gamma-globin genes were explored using standard methods in patients affected by thalassemic diseases. Ninety-five non thalassemic individuals have been examined as controls. RESULTS: Two clinical variants of beta-thalassemia intermedia referred to as beta-thal int sub-silent and evident are associated with distinct sets of mutations of the beta-globin gene. Silent beta thal mutations are invariably associated with sub-silent beta thal int; beta degrees or severe beta+ thal mutations are associated with evident beta thal int (88%) and almost invariably (98%) with thalassemia major. A positive correlation was observed between the severity of the disease and the Hb F level, but no correlation was found between the Hb F and erythropoietin (Epo) level. The mutation Ggamma -158 C→T was detected in 26.9% of patients affected by beta-thal int sub-silent and evident, respectively, but only in 2% of patients with thalassemia major. CONCLUSIONS: The severity of beta-thal int and the increased Hb F level are strictly dependent from the type of beta-globin gene mutations. No relation is found between Hb F synthesis and Epo secretion. The mutation Ggamma -158 C→T, common among patients affected by beta-thal int and very rare in thal major patients, does not seem, in this study, to influence the Hb F content in beta thal int patients.