Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population

Sassi, R.; Hmida, Slama; Kâabi, H.; Hajjej, Abdelhafidh; Abid, A.; Abdelkefi, S.; Yacoub, S.; Maamar, M.; Mojaat, N.; Hamed, L. Ben; Bellali, H.; Dridi, A.; Jridi, A.; Midouni, B.; Boukef, M. K.

doi:10.1016/j.anngen.2004.05.001

Cited by 22 publications

(9 citation statements)

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“…The 11.25% allele frequency in Jordan is closer to that reported from European populations like UK, Sweden, Norway and Italy [5]. In addition, Jordanian H63D allele frequency is much less than that reported in Spain where the highest European frequency is found and is slightly less than that reported for Turkey, Greece, and North Africa [5,17]. No compound heterozygotes were found.…”

Section: Discussionsupporting

confidence: 42%

Frequency of the Hemochromatosis Gene (HFE) Variants in a Jordanian Arab Population and in Diabetics from the Same Region

2009

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Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. In this study we performed mutation analysis to identify allele frequency of the three variants of HFE gene in Jordanian Arab population, to assess deviations of these frequencies from those detected elsewhere, and to determine if there is an increased frequency of these variants in a diabetic population (Type 2 diabetes) from the same area. DNA was extracted from blood samples of 440 individuals attending King Abdullah University Hospital for ambulatory services. We used polymerase chain reaction (PCR) to amplify exons 2 and 4 of the HFE gene then restriction fragment length polymorphism (RFLP) method to detect the variants. There were neither homozygous nor heterozygous for C282Y variant. For the H63D variant, 0.68% were homozygous and 21.1% were heterozygous. For the S65C variant, there were no homozygous and 0.23% were heterozygous. Allelic frequencies were, 0%, 11.25%, and 0.11% for C282Y, H63D, and S65C, respectively. Our samples were subdivided into two categories of type 2 diabetic (89 cases) and controls (blood donors, 204 cases) and compared with regard to the H63D variant. Both groups did not have homozygous H63D variant. H63D heterozygous in diabetics were 23.60% and in blood donor controls 22.55%. Allelic frequency of the mutant H63D allele was 11.80% in diabetics and 11.27% for the blood donor controls. This is the first study to show the frequency of the three hemochromatosis gene variants in Jordan with the interesting finding of no C282Y allele detected in 440 samples. Additionally, no significant difference was observed in H63D variant frequency in type 2 diabetics as compared to controls.

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Section: Discussionsupporting

confidence: 42%

Frequency of the Hemochromatosis Gene (HFE) Variants in a Jordanian Arab Population and in Diabetics from the Same Region

2009

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“…The mutated C282Y allele frequency in Murcians is lower than that reported in other populations with Celtic ancestry (Northern European) and other European and Iberian populations (2,4). This frequency is similar to Sardinian and North African countries (5) and is among the lowest reported in Europe.…”

mentioning

confidence: 44%

Prevalence of C282Y, H63D and S65C mutations of the hemochromatosis (HFE) gene in a population from southeastern Spain (Murcia Region)

Muro

Botella

et al. 2006

Clinical Genetics

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“…First, our sample was restricted to a homogeneous sample of Chinese workers who were occupationally exposed to lead, who displayed a lower prevalence of the allelic frequency of the H63D variant (2.98%) than people from Europe (12∼15%), the America (14∼15%), North Africa (13∼17%) and South Korea (3.8%) but displayed a higher prevalence than people from Japan (0.99%) [33], [34]. Furthermore, our sample contained no C282Y variant carriers.…”

Section: Discussionmentioning

confidence: 99%

The Effect of the Hemochromatosis (HFE) Genotype on Lead Load and Iron Metabolism among Lead Smelter Workers

Fan

et al. 2014

PLoS ONE

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BackgroundBoth an excess of toxic lead (Pb) and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE) gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking.ObjectivesTo explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant) on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure.MethodsSeven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted.ResultsForty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin.ConclusionsNo C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

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Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population

Cited by 22 publications

References 22 publications

Frequency of the Hemochromatosis Gene (HFE) Variants in a Jordanian Arab Population and in Diabetics from the Same Region

Frequency of the Hemochromatosis Gene (HFE) Variants in a Jordanian Arab Population and in Diabetics from the Same Region

Prevalence of C282Y, H63D and S65C mutations of the hemochromatosis (HFE) gene in a population from southeastern Spain (Murcia Region)

The Effect of the Hemochromatosis (HFE) Genotype on Lead Load and Iron Metabolism among Lead Smelter Workers

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