δ-Thalassemia in Cyprus

Pavlou, Eleni; Phylactides, Marios; Kyrri, A.; Kalogerou, Eleni; Makariou, Christiana; Georgiou, Ioannis; Kleanthous, Marina

doi:10.1080/03630260600868006

Cited by 27 publications

(13 citation statements)

References 10 publications

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“…The Hb A2-Yialousa had the relative frequency of about 75% in East Sicily. This prevalence is similar to that already reported in other Mediterranean countries (De Angioletti et al, 2002;Giambona et al, 2006;Pavlou et al, 2006) and probably could correlate with the age of the mutation. The Hb A2-Mitsero was the second allele with about 8%.…”

Section: Molecular Epidemiologysupporting

confidence: 91%

“…It showed a particular epidemiologic pattern. In fact, it had the highest relative frequency in Cyprus (18%) (Pavlou et al, 2006) and was rare in Southern Italy (De Angioletti et al, 2002) or West Sicily (Giambona et al, 2006). The Hb A2-NYU was found only in 3/115 chromosomes in East Sicily, but 5/43 in Southern Italy.…”

Section: Molecular Epidemiologymentioning

confidence: 99%

“…edu/hbvar/menu.html). In spite of this large variability, one mutation, the Hb A2-Yialousa, has 60-80% of relative frequency while the other mutations have been detected in few families (Guiso et al, 1996;De Angioletti et al, 2002;Giambona et al, 2006;Pavlou et al, 2006). Studies of the RFLP-haplotypes (Moi et al, 1988;Trifillis et al, 1993;De Angioletti et al, 2002) or SNPs (Patrinos et al, 2001), carried out in a few families, have led to conflicting hypotheses about the origin of mutant alleles.…”

Section: Introductionmentioning

confidence: 99%

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Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

Lacerra

Musollino

Scarano

et al. 2008

Gene

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Section: Molecular Epidemiologysupporting

confidence: 91%

Section: Molecular Epidemiologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

Lacerra

Musollino

Scarano

et al. 2008

Gene

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“…We suggest that all couples where both partners show variation in any Hb gene in the Guangxi region should be screened for α‐thalassaemia mutations (3). The occurrence of both δ‐thalassaemia and structural Hb variants was lower than expected except for those common Hb variants causing α‐thalassemia (Hb Westmead, Hb CS, and Hb QS) or β‐thalasssemia (Hb E); the incidence of δ‐thalassaemia in Guangxi of 0.16% was far less than that in Italy (2.5%) or Cyprus (1.47%) (17, 29). Thus, co‐inheritance of β‐ and δ‐thalassaemia, which might lead to misdiagnosis, is rare.…”

Section: Discussionmentioning

confidence: 84%

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

et al. 2010

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Accurate and up-to-date data on the frequency of haemoglobinopathies among the populations of Guangxi Zhuang Autonomous Region, where haemoglobinopathies are most endemic in China, are required. In our study, a total of 5789 samples obtained from members of the Han, Zhang, and Yao ethnic groups in six geographical areas of Guangxi Province were analysed systematically in terms of both haematological and molecular parameters. The results presented that the total heterozygote frequency of thalassaemias and other haemoglobinopathies was 24.51%, of which 17.55% was due to alpha-thalassaemia, 6.43% to beta-thalassaemia, 0.38% to structural haemoglobin variants, and 0.16% to delta-thalassaemia. The mutational spectrum among the local population for each type of disorder was described, including the first report on the true prevalence of three silent alpha thalassemia defects, -alpha(3.7)/(4.78%), -alpha(4.2)/(1.61%) and Hb Westmead (alpha(WS)alpha/) (1.57%) and of delta-thalassemia resulting from five novel and two rare mutations never before identified in Chinese individuals. Comparison of the frequencies of alpha-globin mutations among the ethnic groups showed that there was a statistically significant difference between the Han (15.71%) and Zhuang (20.12%), and between the Han (15.71%) and Yao (20.84%) ethnic groups. In addition, we have performed the first extensive study of haematological parameters of the Hb Westmead mutation using a group of Chinese subjects with compound heterozygosity for this variant and an alpha-thalassaemia deletion. The knowledge gained in this study will enable us to estimate the health burden in this high-risk population and to elucidate the various genetic alterations that underlie haemoglobinopathies.

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“…Written informed consent was obtained from the patients during donation of their DNA for use as anonymous samples. DNA amplification and sequencing were performed using a BECKMAN Coulter CEQ8000 non-radioactive fluorescence dye-based genetic analysis system, according to Pavlou et al [11]. We identified IVS-1/nt-6 (T>C), IVS-1/nt-110 (G>A), IVS-2/nt-1 (G>A), and Cd44 (-C) mutations in all the DNA samples.…”

Section: To the Editormentioning

confidence: 99%

HbA2-Yokoshima (delta 25(B7)Gly >Asp) and Hb A2-Yialousa (delta 27(B9)Ala>Ser) in Turkey

Köseler

Atalay

2012

Turk J Hematol

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δ-Thalassemia in Cyprus

Cited by 27 publications

References 10 publications

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

HbA2-Yokoshima (delta 25(B7)Gly >Asp) and Hb A2-Yialousa (delta 27(B9)Ala>Ser) in Turkey

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