Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

Bayoumi, Riad; Nur-E-Kamal, M. S. A.; Tadayyon, M.; Mohamed, K.K.A.; Mahboob, B.H.; Qureshi, M.M.; Lakhani, M.S.; Awaad, M; Kaeda, Jaspal; Vulliamy, Tom; Luzzatto, Lucio

doi:10.1159/000154342

Cited by 43 publications

(37 citation statements)

References 11 publications

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“…This level is lower than that reported from neighboring Gulf countries such as Bahrain 21% [Mohammed et al, 1992] and Oman 27% [White et al, 1993]. However, variable frequencies within different ethnic groups were found within UAE nationals with Yemenis at a low frequency of 3-6%, whereas Baluchis had a high frequency of 28-45% [Bayoumi et al, 1996]. Among the nondeficient subjects the major normal allele was GdB [Bayoumi et al, 1996].…”

Section: G6pd Deficiencymentioning

confidence: 56%

“…The frequency of G6PD deficiency in males in the UAE ranges from 11-15% Bayoumi et al, 1996], whereas in females it is $5% [Bayoumi et al, 1996]. This level is lower than that reported from neighboring Gulf countries such as Bahrain 21% [Mohammed et al, 1992] and Oman 27% [White et al, 1993].…”

Section: G6pd Deficiencymentioning

confidence: 70%

“…However, variable frequencies within different ethnic groups were found within UAE nationals with Yemenis at a low frequency of 3-6%, whereas Baluchis had a high frequency of 28-45% [Bayoumi et al, 1996]. Among the nondeficient subjects the major normal allele was GdB [Bayoumi et al, 1996]. Of the 18 deficient subjects studied, 14 had the B type mobility of G6PD Mediterranean and 4 had the A type mobility of G6PD AÀ.…”

Section: G6pd Deficiencymentioning

confidence: 90%

“…The Mediterranean mutation (c.563C4T, S.188F) was found to be the most common cause of G6PD deficiency in the UAE (Table 4). Other mutations detected include the African mutation c.202G4A, p.V68M and G6PD-Aures (c.143T4C, I48T) [Bayoumi et al, 1996].…”

Section: G6pd Deficiencymentioning

confidence: 99%

“…This included ectrodactyly of the right hand with nail dysplasia, Bayoumi et al [1996] a DNA mutation numbering is based on the cDNA sequence using the GenBank accession NM_001042351.1 with 11 as the A of the ATG initiation codon. contractures at the right elbow joint, no elbow joint on the left with left arm ending in an appendage that looked like a deformed finger with dysplastic nail, lower limbs were absent and replaced by a stick-like appendage more severe on the right side.…”

Section: Desbuquois Syndromementioning

confidence: 99%

See 4 more Smart Citations

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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Section: G6pd Deficiencymentioning

confidence: 56%

Section: G6pd Deficiencymentioning

confidence: 70%

Section: G6pd Deficiencymentioning

confidence: 90%

Section: G6pd Deficiencymentioning

confidence: 99%

Section: Desbuquois Syndromementioning

confidence: 99%

See 3 more Smart Citations

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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Demographics and co‐occurring conditions in a clinic‐based cohort with Down syndrome in the United Arab Emirates

Corder

Ahbabi

Dhaheri

et al. 2017

American J of Med Genetics Pt A

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The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital. Key demographic findings include mean maternal age of 37 years, among the highest described in the literature. Sixty-two percent of mothers are >35 years. Over 90% of mothers received post-natal diagnosis of Down syndrome. High sex ratio, parental consanguinity, and large family size also characterize the group. The spectrum of many co-occurring conditions mirrors that of previously described populations, with some notable differences. Cardiovascular malformations are well represented, however, atrioventricular canal is not the most common. Genitourinary conditions are common, as evidenced by 12% of males with hypospadias and 15% with undescended testes. Glucose-6-phosphate dehydrogenase deficiency, alpha thalassemia trait, hypovitaminosis D, and dental caries are common in our cohort. This study describes a large hospital-based group with Down syndrome presenting to a new dedicated Down syndrome clinic in the UAE, highlighting unique demographic and co-occurring conditions found in that population.

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Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

Ainoon

Joyce

et al. 2002

Hum. Mutat.

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We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 26.7% were nt 563 C>T (G6PD Mediterranean) and 15.1% were 487G>A (G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PD Vanua Lava), 3.5% 592C>T (G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3% 1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham), 1.2% 131C>G (G6PD Orissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.

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Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

Cited by 43 publications

References 11 publications

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Demographics and co‐occurring conditions in a clinic‐based cohort with Down syndrome in the United Arab Emirates

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

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