β-Thalassemia in Yugoslavia

Dimovski, Aleksandar; Efremov, Dimitar G.; Janković, Ljiljana; Juricić, D; Zisovski, N; Stojanovski, Nikola; Nikolov, Nikolay; Gt, Petkov; Al, Reese; Stoming, T. A.

doi:10.3109/03630269009002251

Cited by 40 publications

(16 citation statements)

References 12 publications

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“…This may be due to the fact that this mutation is primarily a western Mediterranean abnormality [26]. A similar observation is noted for the G-A substitution at IVS-I-1, seen mainly in the belt extending from Czech/Slovakia [27] to Egypt [28] through Hungary [29], former Yugoslavia [30], Greece [16], and Cyprus [24]. This, most likely, accounts for the higher representation of this mutation in the Marmara (9.1%), Aegean and Mediterranean regions (6.6%) and in Turkish people originating from the Balkan countries (9.8%; Table I).…”

Section: Discussionsupporting

confidence: 49%

Molecular and population genetic analyses of β-Thalassemia in Turkey

et al. 1998

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In this report we describe the molecular analysis of 795 chromosomes derived from unrelated Turkish ␤-thalassemia and sickle cell anemia carriers identified in hematology clinics in Istanbul, Ankara, Izmir, Adana, and Antalya. The determination of the molecular pathology of 754 ␤-thalassemia and 42 abnormal hemoglobin genes and analysis of the frequency distribution in six distinct regions of Turkey was accomplished. The experimental strategy, based on PCR amplification of the ␤-globin gene, included dot-blot hybridization with 18 probes specific for the Mediterranean populations, denaturing gradient gel electrophoresis, and genomic sequencing. When the regional results are compared with the overall frequency of mutations in the country, it is observed that the frequencies in the western and southern parts of Turkey are in good accordance with the overall distribution, whereas the northern and eastern parts have a more region/ population-specific profile with some rare mutations having a significantly high occurrence in these regions. Further evaluation of the data with respect to region-or population-dependent differences will contribute to a better understanding of the mechanisms leading to the marked genetic heterogeneity in Turkey, but could also be extremely valuable in facilitating rapid identification of mutations in families at risk for different hemoglobinopathies. Am. J. Hematol. 57:215-220, 1998.

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Section: Discussionsupporting

confidence: 49%

Molecular and population genetic analyses of β-Thalassemia in Turkey

et al. 1998

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“…The IVS-I-6 (T→C) mutation is one of the most common causes of β-thalassemia among individuals of Mediterranean and Middle Eastern ancestry [39,40]. Its high incidence has been reported among populations from Portugal [41]; Spain [42,43]; Albania [44]; the region of former Yugoslavia [45,46,47,48]; Greece [49,50,51,52]; Algeria [53]; Egypt [54]; Palestine [55,56]; Lebanon [57]; Syria [58,59]; Cyprus [60]; Turkey [61,62,63,64,65]; Saudi Arabia [66,67]; Iraq [68,69,70,71]; Iran [72,73,74]; and elsewhere. It results from a base substitution close to the 5′ splice junction, between exon I and intron I, and within a conserved consensus sequence, interfering with mRNA splicing and, consequently, reducing its efficiency.…”

Section: Discussionmentioning

confidence: 99%

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

et al. 2017

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Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study. In total, the study enrolled 104 patients. EMH was revealed in 15/104 (14%) patients. The presence of intravening sequence (IVS)-I-6 was significantly related with the development of EMH (p < 0.05). No other demographic or biological factor studied was found to be related with the presence of EMH. The study stresses a profound incidence of asymptomatic EMH in a solid group of well-transfused ΤΜ patients. Given the high incidence of the IVS-I-6 allele in the Mediterranean and Middle Eastern region, high-quality, prospective, multicenter studies could confirm the association of EMH occurrence with the presence of the IVS-I-6 mutation and further evaluate the exact role of this mutation in the EMH process.

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“…Although the common frequent alleles in Jordan are generally similar to those found in other countries in the region, many rare alleles reported in the region were not detected in this study. These included codon 29 (C>T) reported in Lebanon and Yugoslavia [24,25,35], the 290-bp deletion reported in Lebanon, Syria, and Turkey [24][25][26][31][32][33], the 25-bp deletion reported in Lebanon, West Saudi Arabia, Kuwait, and United Arab Emirates (UAE) [16][17][18]24,25,[36][37][38], the Saudi Arabian IVS1-128 (T>G) [39], codon 44 (-C) reported in Kurdish Jews, UAE, and Tunisia [34,37,38,40], and the frame shift at codons 8/9 (+G) reported in Saudi Arabia, Kuwait, and Jordanians living in Saudi Arabia [17,18,36].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations

2001

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Two hundred and forty-four ␤-thalassemia alleles were identified from 135 unrelated occasionally and periodically transfusion dependent ␤-and S/␤-thalassemia patients from all regions of Jordan. Allele identification was achieved by PCR amplification of ␤-globin genes, dot-blotting the amplified DNA, hybridization with allele specific synthetic probes, and direct sequencing of amplified genomic DNA. A total of 19 different mutations were detected, eight of them constituted about 86% of the Jordanian thalassemic chromosomes. These mutations were IVS1-110 (G>A) (25%), IVS2-1 (G>A) (15%), IVS2-745 (C>G) (14.2%), IVS1-1 (G>A) (10%), IVS1-6 (T>C) (8.3%), codon 37 (G>A) (6.3%), codon 39 (C>T) (4.6%), and codon 5 (-C) (3.8%). The remaining eleven mutations were rare, presented with frequencies ranging between 0.4% and 1.6%. These included two novel mutations and four others detected in Jordan for the first time

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β-Thalassemia in Yugoslavia

Cited by 40 publications

References 12 publications

Molecular and population genetic analyses of β-Thalassemia in Turkey

Molecular and population genetic analyses of β-Thalassemia in Turkey

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations

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