Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia

Daoud, Béchir Ben; Mosbehi, I.; Préhu, Claude; Chaouachi, Dorra; Hafsia, R; Abbès, Salem

doi:10.1016/j.patbio.2007.08.009

Cited by 19 publications

(14 citation statements)

References 13 publications

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“…The Mediterranean mutation is the most common mutation in Asian Arab countries and Egypt, with frequencies ranging from a low of 53.6% in Jordan to a high of 91.2% in Bahrain [17-22], while it is the second most common variant in some African Arab countries like Algeria and Tunisia with frequencies of 23% and 11.4% respectively [23,24]. The Mediterranean mutation is also the most frequent mutation among Iraqi Kurds (87.8%), in neighboring Turkey (80%), Iran (66.2%-91.2%), Southern Europe (69-77%) and the Indian subcontinent (60.4-79.6%) [12,25-32] (Figure 1).…”

Section: Discussionmentioning

confidence: 99%

“…The A- variant is the most frequent variant in some African Arab countries like Tunisia and Algeria with rates of 63.6% and 46% respectively [23,24]. The latter is anticipated since the A- mutation is almost the sole mutation responsible for G6PD deficiency in tropical Africa (Figure 1) and it is common in areas where people of African origin are present [2].…”

Section: Discussionmentioning

confidence: 99%

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Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

et al. 2012

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Background Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. Methods A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation. Results G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Conclusions Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

et al. 2012

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“…Since then, 1311 polymorphism has been shown to be quite prevalent among G6PD-deficient people, particularly in those with Gd-Med mutation, and has been reported in many countries all over the world including Portugal, Pakistan, Sardinia, and Tunisia [20-23]. …”

Section: Discussionmentioning

confidence: 99%

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique

Yıldız

Ariyurek²,

Tahiroglu³

et al. 2011

aoms

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IntroductionNucleotide 1311 polymorphism at exon 11 of the glucose-6-phosphate dehydrogenase (G6PD) gene is fairly common in various populations worldwide, especially among Mediterranean populations. In this study, 1311 polymorphism in G6PD-deficient cases was identified by microarray technique.Material and methodsFour hundred and fifty clinically healthy subjects were screened and 32 cases were found to have G6PD deficiency (7.11%). Our analysis of genomic DNA samples from 32 G6PD-deficient individuals revealed that the number and percentage of subjects who had a C-to-T alteration at nucleotide 1311 were 21 and 4.7% respectively. Given that the frequency of 1311 polymorphism has been reported in previous studies to be fairly high among G6PD-deficient people with the Mediterranean mutation, our data seem to be inconsistent with what we would expect for this particular region.ResultsThe highly diverse ethnic background of the Adana population which probably results from the high level of immigration into this part of Turkey may be one of the most sensible explanations for this unexpected finding. Nevertheless, it seems that our results need to be confirmed in larger studies.ConclusionsThe polymorphism studies in the G6PD gene may help us to illuminate the genetic basis of the G6PD deficiency in different regions and in various ethnic groups, and also to discover the influence of a specific polymorphism on the clinical course of the deficiency.

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“…In Tunisia, the African G6PD*A - variant is the most prevalent among G6PD patients and causes a severe phenotype hemolytic anemia following the ingestion of fava beans. 80 This mutation is also followed by the G6PD*Mediterranean (c.563C>T; p.Ser188Phe) and the G6PD*Aures (c.143T>C; p.lle48Thr) mutations. The later, was originally described in Algeria and then in Saudi Arabia.…”

Section: Blood Disordersmentioning

confidence: 97%

“…81,82 The analysis of mildly affected males, revealed the presence of the association of c.1311C>T, a newly described silent mutation in the exon 12, with the c.93T>C polymorphism in the intron 11 and two single intronic base deletions: IVS-V-17 (-C) and IVS-VIII-43 (-G). 80 In Sudan, the G6PD*B variant represents the most common type of enzyme in all the population groups. However, the mutant G6PD*A + enzyme, but with normal activity, is prevalent among individuals of African descent.…”

Section: Blood Disordersmentioning

confidence: 99%

Arab gene geography: From population diversities to personalized medical genomics

Tadmouri

Sastry

Chouchane

2014

Global Cardiology Science and Practice

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Genetic disorders are not equally distributed over the geography of the Arab region. While a number of disorders have a wide geographical presence encompassing 10 or more Arab countries, almost half of these disorders occur in a single Arab country or population. Nearly, one-third of the genetic disorders in Arabs result from congenital malformations and chromosomal abnormalities, which are also responsible for a significant proportion of neonatal and perinatal deaths in Arab populations. Strikingly, about two-thirds of these diseases in Arab patients follow an autosomal recessive mode of inheritance. High fertility rates together with increased consanguineous marriages, generally noticed in Arab populations, tend to increase the rates of genetic and congenital abnormalities. Many of the nearly 500 genes studied in Arab people revealed striking spectra of heterogeneity with many novel and rare mutations causing large arrays of clinical outcomes. In this review we provided an overview of Arab gene geography, and various genetic abnormalities in Arab populations, including disorders of blood, metabolic, circulatory and neoplasm, and also discussed their associated molecules or genes responsible for the cause of these disorders. Although studying Arab-specific genetic disorders resulted in a high value knowledge base, approximately 35% of genetic diseases in Arabs do not have a defined molecular etiology. This is a clear indication that comprehensive research is required in this area to understand the molecular pathologies causing diseases in Arab populations.

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Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia

Cited by 19 publications

References 13 publications

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique

Arab gene geography: From population diversities to personalized medical genomics

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