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To register the opinions and feelings of (presumed) unaware healthy hemoglobinopathy carriers, receiving information on their carrier status.We collected 259 interviews from the parents of secondary school students, after their children had been provisionally diagnosed as hemoglobinopathy carriers during the routine school screening campaign imbedded in the public health care program of the Latium region (Central Italy). After screening of the children, all parents received a standard reassuring letter informing them about the presumed healthy carrier status of their children and were invited for a confirmation of the trait and for an additional explanation if needed.We have analyzed 219 interviews (84.5%) from indigenous subjects and 40 from allochthonous people (15.5%) being either recent immigrants or mixed couples. The average age of the parents was 45.5 years. Only 51 (19.7%) had previous knowledge of their carrier status, while the rest were unaware. When reading the letter with the provisional diagnostic result of their child, emotions that could be considered undesirable were present in about 60% of the cases. Nevertheless, the information was experienced as welcome, clear, and useful by 100% of the participants. When asked about the option of prenatal diagnosis (PD) in case of genetic risk, 85.7% and 87.5% of the autochthonous and allochthonous interviewed declared either to be in favor or to eventually consider PD, while only 14.3% and 12.5% would not consider it for various reasons.During our study, we registered undesirable feelings as well as welcome reactions: the first being experienced during the very first reading of the letter and the second after reflection on and understanding of the content during the visit to the center later on. Significantly, satisfaction and understanding of the advantage of knowledge was registered in 100% of the cases during our enquiry.

The aim of this study was to describe the changing pattern of mutational spectrum of -thalassemia (-thal) in the Lazio region (Central Italy), as consequence of recent demographic variations. From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes and 65 homozygotes or compound heterozygotes) coming from 44 different foreign countries, have been molecularly characterized. 14 -globin gene mutations were identified and their frequencies reflect different ethnic origins: 8 of these mutations account for 76.97% of all molecular defects, while 6 of them are much rare, representing less than 2% of the total. These data differ, both in type and percentage, from the mutational spectrum detected in the native population in 1995. Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group.

Objective To review prevention data for hemoglobinopathies from Latium, a large Italian region with a considerable immigrant population and with a well-established regional prevention program. Method All data pertaining to population screening for hemoglobinopathies in the Latium region were reviewed for the period 1994–2007. Screening was performed universally in secondary schools and to pregnant couples at the time of prenatal care. We have examined the trends in positive screening results as well as the type of hemoglobinopathies detected during the study period, and we have correlated them to the type of population (immigrant vs indigenous). Results From 1994 to 2007, 167 235 individuals were examined for carrier status for hemoglobinopathies, and 10 353 of them (6.2%) were immigrants. We have registered a threefold increase in rates of screen-positive subjects who belonged to ethnic minorities during the study period (from 2.7% in 1994 to 9.8% in 2007). Over half of the screen-positive subjects (5397/10 353) presented no hematological anomalies, 24% (n = 2472) had iron deficiency, and 24% (n = 2484) was classified as putative carriers. Among the last group, 22.6% were carriers of β-thalassemia, 48% were suspected α-thalassemia carriers, and the remainder had less common hemoglobinopathies. While the prevention program resulted in nearly zero births of autochthonous newborns affected by severe hemoglobinopathies, a rise in number of affected individuals was noted among immigrants. Screening of secondary school students was accepted by 67% of immigrant parents, resulting in 9737 pupils screened between 2002 and 2006. Conclusion Existing preventive programs for severe hemoglobinopathies should adapt to changes in population ethnicities. Screening for hemoglobinopathies at school age is an efficient strategy. Copyright © 2009 John Wiley & Sons, Ltd.

To reduce the incidence of β-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.

Item does not contain fulltext We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300 kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype. (c) 2011 Wiley Periodicals, Inc.

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° 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.

A case of cardio-facial syndrome with dysmorphic and asymmetric crying face, congenital heart defects, failure to thrive is described. The authors review the literature and underline the importance of asymmetric crying face as a marker of associated congenital anomalies.