Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/99427
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.date.accessioned | 2022-07-15T11:28:59Z | - |
dc.date.available | 2022-07-15T11:28:59Z | - |
dc.date.issued | 2018 | - |
dc.identifier.citation | Camilleri, A., Galdies, R., Cassar, W., Grech, L., Borg, J.J., Cutajar, J., Scerri, C., Felice, A. (2018). Novel beta globin gene cluster rearrangements and deletions in the Maltese islands. In P. Schembri-Wismayer, R. Galea, C. Scerri, R. Muscat & A. Fenech (Eds.), 10th Malta Medical School Conference : conference abstract book (pp. 105). | en_GB |
dc.identifier.issn | 18133339 | - |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/99427 | - |
dc.description.abstract | Introduction: Hb F Malta 1 and Hb Valletta are common haemoglobin variants found in the Maltese population, in strong linkage disequilibrium with each other. Genotype and phenotype analysis of Hb F Malta 1 newborn was performed to find rearrangements and deletions at the beta globin cluster. A case study of a deletional beta thalassaemia is also discussed. Methods: Two hundred and eighty-two Hb F Malta 1 newborn were enrolled in the study. A reverse phase HPLC was used for globin chain quantification. Multiple ligation probe analysis and qPCR were used detect deletions or duplications at the beta globin cluster. A case study of a female of Asian descent presenting with the phenotype of beta thalassemia trait is described. Since routine clinical testing failed to find a cause for the microcytic anaemia, the aforementioned techniques were used to look for atypical deletional beta thalassaemia. Results: Novel cases of newborn with broken linkage between Hb Valletta and Hb F Malta 1 were discovered, suggesting a higher rate of recombination events in this region. Gene conversion mutations, deletions and duplications at the gamma globin genes were discovered. In the case study, a large heterozygous deletion involving the beta globin gene and several downstream olfactory genes was found. Conclusion: The case study highlights the importance of alternative techniques for diagnostic testing in a population with increasing genetic heterogeneity. A larger study population has enabled the detection of rare rearrangements at the beta globin cluster and copy number variations can be detected with qPCR. Disclosures: The research was funded by the Endeavour Scholarship Scheme | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | University of Malta. Medical School | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | DNA-binding protein interactions | en_GB |
dc.subject | Hemoglobin | en_GB |
dc.subject | DNA -- Structure | en_GB |
dc.subject | Proteins -- Structure | en_GB |
dc.subject | Globin genes | en_GB |
dc.title | Novel beta globin gene cluster rearrangements and deletions in the Maltese islands | en_GB |
dc.title.alternative | 10th Malta Medical School Conference : conference abstract book | en_GB |
dc.type | other | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder | en_GB |
dc.bibliographicCitation.conferencename | 10th Malta Medical School Conference | en_GB |
dc.bibliographicCitation.conferenceplace | St. Julian's, Malta, 29/11-1/12/2018 | en_GB |
dc.description.reviewed | N/A | en_GB |
dc.contributor.creator | Camilleri, Alexander | - |
dc.contributor.creator | Galdies, Ruth | - |
dc.contributor.creator | Cassar, Wilhelmina | - |
dc.contributor.creator | Grech, Laura | - |
dc.contributor.creator | Borg, Joseph J. | - |
dc.contributor.creator | Scerri, Christian A. | - |
dc.contributor.creator | Felice, Alex E. | - |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Novel_beta_globin_gene_cluster_rearrangements_and_deletions_in_the_Maltese_islands.pdf | 95.21 kB | Adobe PDF | View/Open |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.