The molecular heterogeneity of β-thalassemia in Greece

Boussiou, Marina; Karababa, Photini; Sinopoulou, Klio; Tsaftaridis, Panagiotis; Plata, Eleni; Loutradi-Anagnostou, Aphrodite

doi:10.1016/j.bcmd.2007.11.003

Cited by 36 publications

(25 citation statements)

References 8 publications

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“…In Turkey as a whole, Başak et al found this mutation frequency to be 5.4% (Basak, 2008). This mutation was the most frequent one in Iran (33.9%) and Kuwait (29.2%); however, it is difficult to explain why this mutation is frequent in Diyarbakir, Cukurova and Gaziantep as compared to Turkey in general (Table 3) Boussiou et al, 2008;Kyriacou et al, 2000;Darwish et al, 2005;Petkov and Efremov, 2007;Curuk et al, 1992;Peykar et al, 2007;Al-Allawi et al, 2006). IVS 1.1 (G>A) is the third most frequent mutation in our study at 7.7%.…”

Section: Resultsmentioning

confidence: 65%

“…It was the fourth most frequent (5.5%) mutation in Diyarbakir and in Turkey as a whole in accordance with the findings of Başak et al (2008) and Ince et al (2003). This mutation was seen mainly in the β-thalassemia zone, from Hungary, Yugoslavia, Greece and Cyprus to Czechoslovakia (Boussiou et al, 2008;Ringelhann et al, 1993;Dimovski et al, 1990;Efremov, 2007;Indrak et al, 1992). In Turkey, it was common in Turkish people originating from Marmara, Aegean and Balkans (Basak, 2008).…”

Section: Resultsmentioning

confidence: 99%

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Thalassemia mutations in Gaziantep, Turkey

Pehlıvan¹,

Okan²,

Güler³

et al. 2010

Afr. J. Biotechnol.

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Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (−AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, α-thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally, this is the first comprehensive study in this region and percentage of α and β-globin genes mutation is 2.6 and 79.4%, respectively.

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Section: Resultsmentioning

confidence: 65%

Section: Resultsmentioning

confidence: 99%

Thalassemia mutations in Gaziantep, Turkey

Pehlıvan¹,

Okan²,

Güler³

et al. 2010

Afr. J. Biotechnol.

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“…Giambona et al reported HBB:c.*+96T>C mutation in an Italian patient with a slightly elevated HbA 2 level [10]. Moreover, Boussiou et al observed the HBB:c.*+96T>C mutation in 7 Greek patients without any clinical symptoms [11].…”

Section: Resultsmentioning

confidence: 99%

The effect of HBB:c.+96TC (3UTR 1570 TC) on the mild b-thalassemia intermedia phenotype

Bilgen¹,

Canatan²,

Arıkan³

et al. 2011

Turk J Hematol

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Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB:c.*+96T>C in the β-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for β-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical β-thalassemia trait phenotype. The proband was diagnosed as mild β-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB:c.*+96T>C mutation in a Turkish family. HBB:c.* 96T>C substitution is a very rare, but clinically relevant β-globin gene mutation. Additionally, we think that if 1 spouse is a carrier for β-globin gene mutation the other should be screened for silent mutations, such as HBB:c.*+96T>C mutation of the β-globin gene, even if she/he does not have any clinical or hematological signs of the β-thalassemia trait phenotype. (Turk J Hematol 2011; 28: 219-22) Key words: Mild β-thalassemia intermedia, β-globin gene, HBB:c.*+96T>C

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“…2; table 1). A limited number of previous reports have investigated the prevalence of the different β-thalassaemia mutations in the Albanian population [6, 7]. These reports showed that Albania shared the same set of thalassaemia mutations as the other Mediterranean countries and also revealed the molecular heterogeneity with few frequent mutations and a large number of rare defects.…”

Section: Resultsmentioning

confidence: 99%

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

et al. 2009

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In Albania, no definite national screening programme of β-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and screening programme was carried out in one high school with a total of 217 young students from the coastal province of Lushnja in Albania. The pilot programme included a systematic sampling of whole saliva, DNA genomic extraction and the determination of defective β-thalassaemia genes by reverse dot-blot hybridization with 22 probes specific for the Mediterranean populations.Of the 201 subjects tested, 17 (8.4%) students turned out to be carriers of β-thalassaemia mutations and haemoglobin variants. The most common mutation is HbS (c.20A→T) with a frequency of 3.2%, followed by IVS-I-110 (G→A) (c.93-21G→A) substitution identified in 4 out of 402 chromosomes (1%). In the province of Lushnja, the frequency of β-thalassaemia carriers was high. As expected, the results show that identified mutations in this population are similar to those found in the east Mediterranean area, suggesting the same origin for mutant alleles during migratory streams. Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent β-thalassaemia in the region.

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The molecular heterogeneity of β-thalassemia in Greece

Cited by 36 publications

References 8 publications

Thalassemia mutations in Gaziantep, Turkey

Thalassemia mutations in Gaziantep, Turkey

The effect of HBB:c.+96TC (3UTR 1570 TC) on the mild b-thalassemia intermedia phenotype

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

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