Molecular Defects in Beta-Thalassaemia in the Population of Saudi Arabia

El‐Hazmi, Mohsen A. F.; Al-Swailem, A. R.; Warsy, Arjumand S.

doi:10.1159/000154314

Cited by 36 publications

(22 citation statements)

References 21 publications

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“…These mutations included seven of the typically common mutations in the Eastern part of the Mediterranean region, and codon 37 (G>A), which was previously reported in a Saudi Arabian family [15]. While the frequency of codon 37 (G>A) mutation in Jordan is 6%, its frequency has not been yet reported in random group studies of Saudi ␤-thalassemic patients [16][17][18]. This is very likely due to the low frequency of this mutation in the Saudi Arabians compared to that in the Jordanian population.…”

Section: Discussionmentioning

confidence: 92%

“…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%

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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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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

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

2001

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“…A number of studies have been conducted to analyze the spectrum of βthal mutations prevalent in the population of the Eastern Province of Saudi Arabia (10)(11)(12)(13). However, these studies did not take into consideration the ethnic diversity of the population of the Eastern Province due to demographic changes in the last few decades.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of β-Thalassemia Mutations in the Eastern Province of Saudi Arabia

et al. 2011

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β-Thalassemias comprise a group of heterogeneous hemoglobin (Hb) disorders characterized by the absence or reduced synthesis of the β-globin chain with a variable clinical presentation. The Al-Qatif and Al-Ahsa oases in the Eastern Province of Saudi Arabia are regions known for the high prevalence of these disorders. This study was conducted to provide a more precise picture of the β-thalassemia (β-thal) mutations prevalent in these regions and to estimate their frequencies. One hundred and 96 subjects with transfusion-dependent β-thalassemia (β-thal) disease were included in this study. A total of 14 β-thal mutations were identified with five mutations accounting for more than 80% of the total β-thal mutations identified. Of the 196 patients, 164 were homozygous for a β-thal mutation, while 32 were compound heterozygotes. We report here the novel identification of two mutations, namely, the Tunisian splice site IVS-I-130 (G→C) and the Mediterranean cryptic splice site IVS-I-110 (G→A), which have not been previously reported in the population of the Eastern Province. However, 15 patients (46.9%) with compound heterozygosities carried one of the β-thal mutations and the sickle cell mutation [Hb S or β6(A3)Glu→Val]. These patients were less frequently transfused than the patients who were homozygous for the β-thal mutations and presented with fewer complications. A more comprehensive overview of the genetic heterogeneity of the β-thal mutations in the Eastern Province of Saudi Arabia is presented in this article. This study will contribute to the establishment of an effective prevention program, including premarital screening.

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“…The disease has a high frequency in nonsense (C!T) and the b + IVS-1 nucleotide 110 mutations are largely prevalent in the Mediterranean basin. The b + IVS-1 nucleotide 110 seems to be prevalent in the eastern part of the Mediterranean area, including Turkey [10], Lebanon [11], and Egypt [12]. On the other hand, the b 0 -39 mutation is almost exclusive to Sardinia [13].…”

Section: Introductionmentioning

confidence: 99%

?-globin gene cluster haplotypes associated with ?-thalassemia on Corsica island

Falchi¹,

Giovannoni²,

Vacca³

et al. 2004

Am. J. Hematol.

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In the Corsican population, the incidence of b-thalassemia traits is reported to be 3.1%. We have investigated the 2 more important b-thalassemia mutations present in the Corsican population: b 0 -39 and b + IVS1-110. Seven polymorphic sites in the b-globin gene cluster were analyzed from a sample of 43 non-related b-thalassemia heterozygotes and of 47 nonrelated healthy individuals, from Central Corsica (Corte). Among the 43 Corsican patients analyzed, the nonsense codon is predominant (88.40%), whereas the b + IVS1-110 mutation, the most common of b-thalassemia in the eastern part of the Mediterranean basin, is underrepresented (2.33%). The other individuals did not show positive for the two tested mutations (9.27%). The b 0 -39 mutation in the studied population shows a strong association with haplotype II (18.7%) and a weaker association with haplotypes I (2.3%) and VII (2.1%). The strong association of the b 0 -39 mutation with haplotype II was also found in Sardinia, suggesting that the mutation on the two islands have the same origin. In the present study all the data concerning frequencies of the mutations and of sequence haplotypes, support the hypothesis of a western Mediterranean origin of the b 0 -39 mutation. For the first time, this paper analyzes the association of b-globin gene cluster haplotypes with the 2 more frequent b-thalassemia mutations in an isolated population in the centre of Corsica (Corte), which presents certain genetic peculiarities. However, the analysis of b-haplotypes will be very useful for the genetic epidemiological study in this region. Am.

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Molecular Defects in Beta-Thalassaemia in the Population of Saudi Arabia

Cited by 36 publications

References 21 publications

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

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

Spectrum of β-Thalassemia Mutations in the Eastern Province of Saudi Arabia

?-globin gene cluster haplotypes associated with ?-thalassemia on Corsica island

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