Frequency of HFE gene mutations in Iranian beta‐thalassaemia minor patients

Jazayeri, Maryam; Bakayev, Valery V.; Adibi, Peyman; Rad, Farhad Haghighi; Zakeri, Hamid Reza; Kalantar, Enayatollah; Zali, Mohammad Reza

doi:10.1046/j.0902-4441.2003.00159.x

Cited by 26 publications

(10 citation statements)

References 17 publications

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“…However, as indicated in Table 2, our results are very similar to those reported in India and relatively similar to those reported in Turkey [1][3]. Previous studies have described the prevalence of HFE gene mutations in the Iranian population, in patients with thalassemia, and in a group of diabetics [8][9][10]. The results of both these studies were very similar to ours with regards to H63D.…”

Section: Discussionsupporting

confidence: 91%

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Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Jowkar¹,

Geramizadeh²,

Shariat³

2011

Hpat Mon

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BackgroundThe human HFE gene (a key component of iron homeostasis in humans) is involved in hereditary hemochromatosis, a common autosomal recessive genetic disorder that is characterized by excessive intestinal iron absorption and progressive iron overload.ObjectivesIn this study, we assessed the frequency of two common forms of hemochromatosis HFE gene mutation (C282Y and H63D) in patients suffering from cryptogenic cirrhosis.Patients and MethodsOne hundred and fifty individuals were included in this study, in which 100 were patients with cryptogenic cirrhosis and 50 were from the normal population. All individuals were examined for common HFE gene mutations by amplification of nucleotide 845 C282Y and 187 H63D alleles and product analysis using the polymerase chain reaction method and restriction enzyme digestion.ResultsNo case of either a homozygous or heterozygous C282Y mutation was found. For the H63D mutation, no homozygosity was detected but heterozygosity was detected in 22% of patients and in 28% of the normal population.ConclusionsHereditary hemochromatosis is not a major cause of cryptogenic cirrhosis in the Iranian population.

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Section: Discussionsupporting

confidence: 91%

“…The results of both these studies were very similar to ours with regards to H63D. However, we did not observe any cases of heterozygotes for C282Y, whereas the frequency of heterozygotes in patients with thalassemia was 3% in a previous study from Iran [8][9][10][11]. …”

Section: Discussionsupporting

confidence: 89%

Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Jowkar¹,

Geramizadeh²,

Shariat³

2011

Hpat Mon

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“…17,5 Previous Iranian studies reported 8.65% allele frequency for the H63D mutation and absence of the C282Y allele in a limited group of random individuals from the Teheran region. 18,19 However, the same authors reported among bone marrow transplanted patients and b-thalassemia carriers from the same region 12.9 and 1.6% allele frequency for the H63D and for the C282Y mutation, respectively.…”

Section: Introductionmentioning

confidence: 81%

Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in β-thalassemia major and the first E277K homozygous

Karimi¹,

Yavarian²,

Delbini³

et al. 2004

Hematol J

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We present the molecular analysis of HFE gene in 400 Southwest Iranian individuals. We have studied 43 newborn, selected for the presence of HbBart's at birth, 203 normal adult and 154 transfused patients affected with beta-thalassemia. Mutation analysis consisted of amplification and direct sequencing using two different pairs of forward and reverse primers. The C282Y and S65C mutations were not found. The H63D mutation was present with an allele frequency of 0.10 in newborns, 0.082 in normal adults and 0.080 in the beta-thalassemia major populations, respectively. No differences were found between normal adults and thalassemia major patients suggesting that this mutation does not increase mortality in beta-thalassemia. The H63D mutation was found associated with haplotype VI in 41% of the chromosomes. Other haplotypes were found suggesting a multicentric origin rather than a single mutation of European origin. While sequencing exon 4, a G --> A transition was found in the proximity of the C282Y mutation. The effect of this single base substitution (E277K) previously reported in an Asian individual and now found in homozygous form in a young transfused and chelated homozygous beta-thalassemia patient is not yet known.

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“…While significantly higher serum ferritin levels in Italian β-thalassemia carriers with H63D homozygote were observed in one study [10], many others showed no effect on iron loading [9,23,24,25,26]. It has also been shown that the presence of the H63D mutation results in a significant increase in serum transferrin saturation but does not result in significant iron overload [4].…”

Section: Discussionmentioning

confidence: 99%

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

et al. 2007

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We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 (169 males and 201 females) Thai thalassemia carriers and 201 normal subjects. While no IVS5#1G-A mutation was found, the H63D heterozygosity was identified in 5.5% (11/201) of normal subjects and 7.3% (27/370) of thalassemia carriers. Within the thalassemic group, the medians (ranges) of serum ferritin were 217.5 ng/ml (20.1–424.3) and 169.8 ng/ml (3.9–3,536.0) in male subjects and 30.4 ng/ml (11.9–130.7) and 49.3 ng/ml (0.6–931.0) in female subjects with (HD) and without (HH) H63D mutation, respectively. The proportions of subjects with elevated ferritin were found to be 37.5% (6/16) for HD and 14.0% (18/129) for HH in male and 0% (0/11) for HD and 3.0% (5/164) for HH in female subjects, respectively. Statistical analysis of all the data revealed no significant difference. Among 14 Hb E/β-thalassemia patients, no difference in hematological data as well as serum ferritin levels was observed between those with (HD) and without (HH) H63D mutation. Therefore, the H63D heterozygosity has no significant effect on the serum ferritin level and screening for this HFE mutation in thalassemic patients is not recommended.

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Frequency of HFE gene mutations in Iranian beta‐thalassaemia minor patients

Abstract: Our results suggest that HFE mutations C282Y and H63D are more frequent in Iranian BTM patients than in the normal population, causing no significant changes in serum ferritin level.

Cited by 26 publications

References 17 publications

Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in β-thalassemia major and the first E277K homozygous

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

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