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San Giovanni Rotondo, Italy

Dell'Edera D.,Unit of Cytogenetics and Molecular Genetics | Salvatore D.,Cystic Fibrosis Center | Benedetto M.,Unit of Cytogenetics and Molecular Genetics | Lovaglio A.,Basilicata Region | And 2 more authors.
Journal of the Pancreas | Year: 2015

Context Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the cystic fibrosis transmembrane regulator gene and the other to dramatically increase the predictive power of molecular testing. Case report This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. Conclusion On that ground, if there is a strong clinical suspicion, it is always advisable the biochemical study by performing the sweat test, followed by sequencing of the cystic fibrosis transmembrane regulator gene. © 2015, E.S. Burioni Ricerche Bibliografiche. All rights reserved. Source

Badar S.,University of Verona | Busti F.,University of Verona | Ferrarini A.,University of Verona | Xumerle L.,University of Verona | And 11 more authors.
American Journal of Hematology | Year: 2016

Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level" molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). Mutations in such genes are generally rare/private, making the diagnosis of atypical HH essentially a matter of exclusion in clinical practice (from here the term of "non-HFE" HH), unless cumbersome traditional sequencing is applied. We developed a Next Generation Sequencing (NGS)-based test targeting the five HH genes, and applied it to patients with clinically relevant iron overload (IO) and a non-diagnostic first level genetic test. We identified several mutations, some of which were novel (i.e. HFE W163X, HAMP R59X, and TFR2 D555N) and allowed molecular reclassification of "non-HFE" HH clinical diagnosis, particularly in some highly selected IO patients without concurring acquired risk factors. This NGS-based "second level" genetic test may represent a useful tool for molecular diagnosis of HH in patients in whom HH phenotype remains unexplained after the search of common HFE mutations. © 2016 Wiley Periodicals, Inc. Source

Dell'Edera D.,Unit of Cytogenetic and Molecular Genetics | Pacella E.,University of Rome La Sapienza | Epifania A.A.,Unit of Clinical Chemistry | Benedetto M.,Unit of Cytogenetic and Molecular Genetics | And 4 more authors.
European Review for Medical and Pharmacological Sciences | Year: 2011

Objectives: The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin (Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences. The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic deficiency that is the reason of the beta-thalassemic trait. Case Report and Results: To improve this theory the following clinical case is reported: a 29 years old girl that was 11 weeks pregnant addressed us to receive the prenatal screening test related to the first three-month pregnancy period. The biochemical and hematological tests highlighted that Mrs. D.F. was a carrier of the beta-thalassemic trait, (MCV 63fl↓, MCH 30pg, HbA2: 4.4↑, HbF:1.5↑, red blood cells 5.92×106/ul and Hb 12.4 g/dl), that has been confirmed trough our molecular analysis (genotype: β+IVS1.110 G→A in heterozigosys). More difficult to be realized was the case of Mr. B.A.: he showed an uncertain hematological picture labeled as "compatible with a α-thalassemia picture" (MCV 62.9fl ↓, MCH 21.4pg ↓, HbA2: 2.7, HbF: 1.0, red blood cells 5.33×106/ul, Hb 11.4 g/dl↓). This picture revealed difficult to be understood because of the regularity of HbA2 (2.7%) that was in contrast with the value of the MCV (62.9). In situation like this only the molecular diagnosis allows correctly highlighting the specific typology of thalassemia the subject is carrier of. As a matter of fact the molecular analysis excluded the possibility that Mr. B.A. was a α-thalassemia carrier and pointed out that he was a healthy carrier of β-thalassemia (genotype β°39C→T in heterozigosys). In the light of what has been explained above, the couple has been informed about risks to beget child suffering from β-thalassemia and together with the married couple has been decided to work out a prenatal diagnosis through a sample of chorionic villus. Discussion and Conclusions: The identification of these particular cases fixes important implications about the prenatal diagnosis approach. The correct characterization of the healthy carrier is absolutely necessary with a subsequent study in depth of the partner's situation. It is important to highlight the importance of a careful study of hematological parameters and a widespread and correct information about clinical implication connected to the complications of the β-thalassemia. As to this subject, the molecular study of the defect of the gene let to point out couples that run the risk of β-thalassemia and to develop an exhaustive and correct information about the possibility to beget children suffering from β-thalassemia. If two carrier partners wish to have children they can chose among the following possibilities: they can be well informed about the risk and accept the possibility to beget a child suffering from β-thalassemia, they can give up the idea of having children or they can decide to beget children however but to avoid the possibility that the same suffers of thalassemia they can ask for a prenatal diagnosis. Source

Dell'Edera D.,Unit of Cytogenetic and Molecular Genetics | Tinelli A.,V. Fazzi Hospital | Capozzi O.,University of Bari | Epifania A.A.,Unit of Clinical Chemistry | And 7 more authors.
Journal of Medical Case Reports | Year: 2012

Introduction. Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone). Case presentation. Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18. No positive family history was noted regarding premature menopause. An examination of our patient's karyotype showed the presence of a reciprocal translocation, apparently balanced, which had the X chromosome long arm (q13) and the 14 chromosome short arm (p12) with consequent karyotype: 46, X, t(X; 14)(q13;p12). Conclusions: Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea. It highlighted a genetic etiology, in the form of a chromosomal abnormality, as the causal factor in amenorrhea. © 2012 Dell'Edera et al.; licensee BioMed Central Ltd. Source

Dell'Edera D.,Unit of Cytogenetic and Molecular Genetics | Guanciali Franchi P.,University of Chieti Pescara | Lioi M.B.,University of Basilicata | Epifania A.A.,Unit of Clinical Chemistry | And 4 more authors.
Journal of Biological Regulators and Homeostatic Agents | Year: 2011

Von Willebrand's disease (vWD) is the commonest inherited bleeding disorder. Although in literature there are some cases reported of epidural analgesia for labor pain in pregnancies with Von Willebrand's disease, the technique is not free from risk of neurolocal complications. Authors reported a case of spontaneous labor in a pregnant woman with type II vWD, delivered under local analgesia administered through a continuous intravenous infusion of remifentanil integrated by boli. A 34-year-old woman at the 39 th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. The patient coagulation panel was as follows: a reduction of VIII th factor concentration (21%); a normal value of vWD functional assay; an increase of vWf:Ag (antigen) and a reduction of XI th factor. During labor she was put on remifentanil in PCA (patient controlled analgesia), administered with slow boli followed by continuous infusions at increasing doses. The woman delivered a female fetus weighing 3,550 g, in vertex presentation, in left anterior occipital position, with an A.P.G.A.R. of 8 at the first minute and 9 at the fifth minute. The total duration of labor was 3 hours and 10 minutes. The patient was satisfied with analgesia in labor. The bleeding during and after delivery was regular. In the authors' opinion, it is important to know that an alternative to epidural analgesia can be used in order to avoid the risk of neurological complications in labor pain for patients with type II Von Willebrand's disease. Copyright © by BIOLIFE, s.a.s. Source

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