Delta-thalassemia in Cyprus. Pavlou, E., Phylactides, M., Kyrri, A., Kalogerou, E., Makariou, C., Georgiou, I., & Kleanthous, M. Hemoglobin, 30(4):455–462, 2006. Place: Englanddoi abstract bibtex 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–\textgreaterC), Hb A2-Wrens [delta98(FG5)Val–\textgreaterMet, GTG–\textgreaterATG], IVS-I-2 (T–\textgreaterC) and Hb A2-Yokoshima [delta25(B7)Gly–\textgreaterAsp (GGT–\textgreaterGAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala–\textgreaterSer, GCC–\textgreaterTCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg–\textgreaterCys, CGC–\textgreaterTGC], Hb A2-Pelendri [delta141(H19)Leu–\textgreaterPro, CTG–\textgreaterCCG], codon 4 [delta4(A1)Thr–\textgreaterIle], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A–\textgreaterG), IVS-I-2, -55 (T–\textgreaterC) 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%.
@article{pavlou_delta-thalassemia_2006,
title = {Delta-thalassemia in {Cyprus}.},
volume = {30},
issn = {0363-0269},
doi = {10.1080/03630260600868006},
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--{\textgreater}C), Hb A2-Wrens [delta98(FG5)Val--{\textgreater}Met, GTG--{\textgreater}ATG], IVS-I-2 (T--{\textgreater}C) and Hb A2-Yokoshima [delta25(B7)Gly--{\textgreater}Asp (GGT--{\textgreater}GAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala--{\textgreater}Ser, GCC--{\textgreater}TCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg--{\textgreater}Cys, CGC--{\textgreater}TGC], Hb A2-Pelendri [delta141(H19)Leu--{\textgreater}Pro, CTG--{\textgreater}CCG], codon 4 [delta4(A1)Thr--{\textgreater}Ile], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A--{\textgreater}G), IVS-I-2, -55 (T--{\textgreater}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\%.},
language = {eng},
number = {4},
journal = {Hemoglobin},
author = {Pavlou, Eleni and Phylactides, Marios and Kyrri, Andriani and Kalogerou, Eleni and Makariou, Christiana and Georgiou, Ioannis and Kleanthous, Marina},
year = {2006},
pmid = {16987800},
note = {Place: England},
keywords = {Chi-Square Distribution, Codon/genetics, Cyprus/epidemiology, DNA Mutational Analysis, Female, Genetic Carrier Screening, Genetic Testing, Genotype, Globins/*genetics, Hemoglobin A2/*analysis, Heterozygote, Humans, Male, Point Mutation/*genetics, Sequence Analysis, DNA, alpha-Thalassemia/epidemiology/*genetics, beta-Thalassemia/epidemiology/*genetics},
pages = {455--462},
}
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Four novel for Cyprus delta-globin gene mutations: -30 (T–\\textgreaterC), Hb A2-Wrens [delta98(FG5)Val–\\textgreaterMet, GTG–\\textgreaterATG], IVS-I-2 (T–\\textgreaterC) and Hb A2-Yokoshima [delta25(B7)Gly–\\textgreaterAsp (GGT–\\textgreaterGAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala–\\textgreaterSer, GCC–\\textgreaterTCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg–\\textgreaterCys, CGC–\\textgreaterTGC], Hb A2-Pelendri [delta141(H19)Leu–\\textgreaterPro, CTG–\\textgreaterCCG], codon 4 [delta4(A1)Thr–\\textgreaterIle], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A–\\textgreaterG), IVS-I-2, -55 (T–\\textgreaterC) 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%.","language":"eng","number":"4","journal":"Hemoglobin","author":[{"propositions":[],"lastnames":["Pavlou"],"firstnames":["Eleni"],"suffixes":[]},{"propositions":[],"lastnames":["Phylactides"],"firstnames":["Marios"],"suffixes":[]},{"propositions":[],"lastnames":["Kyrri"],"firstnames":["Andriani"],"suffixes":[]},{"propositions":[],"lastnames":["Kalogerou"],"firstnames":["Eleni"],"suffixes":[]},{"propositions":[],"lastnames":["Makariou"],"firstnames":["Christiana"],"suffixes":[]},{"propositions":[],"lastnames":["Georgiou"],"firstnames":["Ioannis"],"suffixes":[]},{"propositions":[],"lastnames":["Kleanthous"],"firstnames":["Marina"],"suffixes":[]}],"year":"2006","pmid":"16987800","note":"Place: England","keywords":"Chi-Square Distribution, Codon/genetics, Cyprus/epidemiology, DNA Mutational Analysis, Female, Genetic Carrier Screening, Genetic Testing, Genotype, Globins/*genetics, Hemoglobin A2/*analysis, Heterozygote, Humans, Male, Point Mutation/*genetics, Sequence Analysis, DNA, alpha-Thalassemia/epidemiology/*genetics, beta-Thalassemia/epidemiology/*genetics","pages":"455–462","bibtex":"@article{pavlou_delta-thalassemia_2006,\n\ttitle = {Delta-thalassemia in {Cyprus}.},\n\tvolume = {30},\n\tissn = {0363-0269},\n\tdoi = {10.1080/03630260600868006},\n\tabstract = {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--{\\textgreater}C), Hb A2-Wrens [delta98(FG5)Val--{\\textgreater}Met, GTG--{\\textgreater}ATG], IVS-I-2 (T--{\\textgreater}C) and Hb A2-Yokoshima [delta25(B7)Gly--{\\textgreater}Asp (GGT--{\\textgreater}GAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala--{\\textgreater}Ser, GCC--{\\textgreater}TCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg--{\\textgreater}Cys, CGC--{\\textgreater}TGC], Hb A2-Pelendri [delta141(H19)Leu--{\\textgreater}Pro, CTG--{\\textgreater}CCG], codon 4 [delta4(A1)Thr--{\\textgreater}Ile], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A--{\\textgreater}G), IVS-I-2, -55 (T--{\\textgreater}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\\%.},\n\tlanguage = {eng},\n\tnumber = {4},\n\tjournal = {Hemoglobin},\n\tauthor = {Pavlou, Eleni and Phylactides, Marios and Kyrri, Andriani and Kalogerou, Eleni and Makariou, Christiana and Georgiou, Ioannis and Kleanthous, Marina},\n\tyear = {2006},\n\tpmid = {16987800},\n\tnote = {Place: England},\n\tkeywords = {Chi-Square Distribution, Codon/genetics, Cyprus/epidemiology, DNA Mutational Analysis, Female, Genetic Carrier Screening, Genetic Testing, Genotype, Globins/*genetics, Hemoglobin A2/*analysis, Heterozygote, Humans, Male, Point Mutation/*genetics, Sequence Analysis, DNA, alpha-Thalassemia/epidemiology/*genetics, beta-Thalassemia/epidemiology/*genetics},\n\tpages = {455--462},\n}\n\n","author_short":["Pavlou, E.","Phylactides, M.","Kyrri, A.","Kalogerou, E.","Makariou, C.","Georgiou, I.","Kleanthous, M."],"key":"pavlou_delta-thalassemia_2006","id":"pavlou_delta-thalassemia_2006","bibbaseid":"pavlou-phylactides-kyrri-kalogerou-makariou-georgiou-kleanthous-deltathalassemiaincyprus-2006","role":"author","urls":{},"keyword":["Chi-Square Distribution","Codon/genetics","Cyprus/epidemiology","DNA Mutational Analysis","Female","Genetic Carrier Screening","Genetic Testing","Genotype","Globins/*genetics","Hemoglobin A2/*analysis","Heterozygote","Humans","Male","Point Mutation/*genetics","Sequence Analysis","DNA","alpha-Thalassemia/epidemiology/*genetics","beta-Thalassemia/epidemiology/*genetics"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://api.zotero.org/users/4516419/collections/XQQRG67P/items?key=iUGtZ5FwZ23zKgsOTKK1Vgda&format=bibtex&limit=100","dataSources":["6iCaXTjNkdcqEW6gd"],"keywords":["chi-square distribution","codon/genetics","cyprus/epidemiology","dna mutational analysis","female","genetic carrier screening","genetic testing","genotype","globins/*genetics","hemoglobin a2/*analysis","heterozygote","humans","male","point mutation/*genetics","sequence analysis","dna","alpha-thalassemia/epidemiology/*genetics","beta-thalassemia/epidemiology/*genetics"],"search_terms":["delta","thalassemia","cyprus","pavlou","phylactides","kyrri","kalogerou","makariou","georgiou","kleanthous"],"title":"Delta-thalassemia in Cyprus.","year":2006}