Sickle cell disease in Bahrain: coexistence and interaction with glucose-6-phosphate dehydrogenase (G6PD) deficiency

Mohammad, Akbar M.; Ardatl, Kasim O.; Bajakian, Koharik M.

doi:10.1093/tropej/44.2.70

Cited by 13 publications

(10 citation statements)

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“…More than 300 different mutations have been reported in the G6PD gene8; to date, the Human Gene Mutation Database (www.hgmd.cf.ac.uk/) has reported 202 mutations, with 68 pathogenic mutations that belong to Class I (WHO). The Mediterranean mutation (p.S188F) is the most prevalent among Arabs, with 90% frequency in Bahraini patients91011, 87.8% in Northern Iraqi males, 74.2% in Kuwait, and 53.6% in Jordan1213. Limited studies have investigated the incidence of G6PD mutations and their functional role in causing disease among Arab countries.…”

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confidence: 99%

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

Alasmar

Bux

et al. 2016

Sci Rep

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A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.

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confidence: 99%

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

Alasmar

Bux

et al. 2016

Sci Rep

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“…These red cells may be better able to deal with oxidative stress, which can precipitate severe hemolytic disease in G-6-PD defi ciency. However, Mohammad et al [16] in a study on the coexistence and interaction of sickle cell disease with G-6-PD deficiency in Bahrain found a positive correlation between G-6-PD defi ciency and sickle cell disease. hemoglobin E trait (Hb AE), and β-thalassemia trait in comparison to normal controls.…”

Section: Resultsmentioning

confidence: 96%

“…[11,12] Similarly, controversy has prevailed regarding the benefi cial, deleterious or neutral effects of G-6-PD deficiency on the clinical status of sickle cell disease. [9,10,[12][13][14][15][16][17] Although both hemoglobinopathies and G-6-PD deficiency are prevalent in malaria endemic areas in India, to the best of our knowledge, no study has ever reported combined conditions in a single individual from India. The present study highlights 29 tribal cases with compound occurrence of hemoglobinopathies and G-6-PD defi ciency in a randomly conducted study in Sundargarh district of northwestern Orissa.…”

Section: Introductionmentioning

confidence: 99%

Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa

Balgir¹

2008

Indian J Med Sci

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“…HbS was also reported to occur with other abnormal haemoglobins ( e.g . HbS/D) in the population of Bahrain36, and a high percentage of the SCD patients (47%) had associated G-6-PD deficiency37.…”

Section: Frequency and Distribution Of Sickle Cell Gene Among Arabsmentioning

confidence: 95%

Sickle cell disease in Middle East Arab countries

El‐Hazmi¹,

Al-Hazmi²,

Warsy³

2011

Indian J Med Res

120

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The sickle cell (HbS) gene occurs at a variable frequency in the Middle Eastern Arab countries, with characteristic distribution patterns and representing an overall picture of blood genetic disorders in the region. The origin of the gene has been debated, but studies using β-globin gene haplotypes have ascertained that there were multiple origins for HbS. In some regions the HbS gene is common and exhibits polymorphism, while the reverse is true in others. A common causative factor for the high prevalence and maintenance of HbS and thalassaemia genes is malaria endemicity. The HbS gene also co-exists with other haemoglobin variants and thalassaemia genes and the resulting clinical state is referred to as sickle cell disease (SCD). In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. These are referred to as the Saudi-Indian and the Benin haplotypes, respectively. In a majority of the Middle Eastern Arab countries the HbS is linked to the Saudi-Indian haplotype, while in others it is linked to the Benin haplotype. This review outlines the frequency, distribution, clinical feature, management and prevention as well as gene interactions of the HbS genes with other haemoglobin disorders in the Middle Eastern Arab countries.

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Sickle cell disease in Bahrain: coexistence and interaction with glucose-6-phosphate dehydrogenase (G6PD) deficiency

Cited by 13 publications

References 0 publications

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa

Sickle cell disease in Middle East Arab countries

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