Delta-thalassemia in Cyprus
| dc.contributor.author | Pavlou, E. | en |
| dc.contributor.author | Phylactides, M. | en |
| dc.contributor.author | Kyrri, A. | en |
| dc.contributor.author | Kalogerou, E. | en |
| dc.contributor.author | Makariou, C. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Kleanthous, M. | en |
| dc.date.accessioned | 2015-11-24T19:25:14Z | |
| dc.date.available | 2015-11-24T19:25:14Z | |
| dc.identifier.issn | 0363-0269 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/22592 | |
| dc.rights | Default Licence | - |
| dc.subject | Chi-Square Distribution | en |
| dc.subject | Codon/genetics | en |
| dc.subject | Cyprus/epidemiology | en |
| dc.subject | DNA Mutational Analysis | en |
| dc.subject | Female | en |
| dc.subject | Genetic Testing | en |
| dc.subject | Genotype | en |
| dc.subject | Globins/*genetics | en |
| dc.subject | Hemoglobin A2/*analysis | en |
| dc.subject | Heterozygote | en |
| dc.subject | Heterozygote Detection | en |
| dc.subject | Humans | en |
| dc.subject | Male | en |
| dc.subject | Point Mutation/*genetics | en |
| dc.subject | Sequence Analysis, DNA | en |
| dc.subject | alpha-Thalassemia/epidemiology/*genetics | en |
| dc.subject | beta-Thalassemia/epidemiology/*genetics | en |
| dc.title | Delta-thalassemia in Cyprus | en |
| heal.abstract | To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-four samples were selected from a random sample of 5,030 individuals, and the database of the Molecular Genetics Thalassaemia Department containing diagnostic analyses data was also mined for relevant information. Four novel for Cyprus delta-globin gene mutations: -30 (T-->C), Hb A2-Wrens [delta98(FG5)Val-->Met, GTG-->ATG], IVS-I-2 (T-->C) and Hb A2-Yokoshima [delta25(B7)Gly-->Asp (GGT-->GAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala-->Ser, GCC-->TCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg-->Cys, CGC-->TGC], Hb A2-Pelendri [delta141(H19)Leu-->Pro, CTG-->CCG], codon 4 [delta4(A1)Thr-->Ile], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A-->G), IVS-I-2, -55 (T-->C) and -30 bring the total to 11 delta-globin alleles found in the Greek Cypriot population. Hb A2-Yialousa is the most common mutation followed by codon 4, with frequencies of 60.7 and 17.8%, respectively.Hb A2 levels above 1.9% have been found to indicate a significantly reduced possibility for the presence of a delta-globin gene mutation in this population. For Hb A2 levels of 1.7 and 1.8% the possibility of a delta-globin gene mutation rises to 90.9% and reaches 100% for lower Hb A2 levels. The frequency of all the mutant delta-globin chromosomes in the sample is 0.0067 and the carrier frequency is 1.26%. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1080/03630260600868006 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/16987800 | - |
| heal.identifier.secondary | http://informahealthcare.com/doi/abs/10.1080/03630260600868006 | - |
| heal.journalName | Hemoglobin | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2006 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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