Hemochromatosis gene mutations in the general population of Slovakia

AbstractThis is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

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Compound Heterozygotes for Hemochromatosis Gene Mutations: May They Help to Understand the Pathophysiology of the Disease?

Blood Cells Molecules and Diseases ◽

10.1006/bcmd.1997.0143 ◽

1997 ◽

Vol 23 (2) ◽

pp. 269-276 ◽

Cited By ~ 39

Author(s):

Patricia Aguilar Martinez ◽

Christine Biron ◽

François Blanc ◽

Christophe Masmejean ◽

Philippe Jeanjean ◽

...

Keyword(s):

Gene Mutations ◽

Hemochromatosis Gene ◽

Compound Heterozygotes

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Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents

AIMS Molecular Science ◽

10.3934/molsci.2021018 ◽

2021 ◽

Vol 8 (4) ◽

pp. 233-247

Author(s):

Bhuvana Selvaraj ◽

◽

Sangeetha Soundararajan ◽

Shettu Narayanasamy ◽

Ganesan Subramanian ◽

...

Keyword(s):

Iron Overload ◽

Iron Status ◽

Globin Gene ◽

Hereditary Hemochromatosis ◽

Gene Mutations ◽

Autosomal Recessive Disorder ◽

Thalassemia Major ◽

Organ Damage ◽

Beta Thalassemia ◽

Hemochromatosis Gene

<abstract> <p>Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with <italic>HFE</italic> gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity. Beta thalassemia is caused by a mutation in the human beta globin gene. Imbalanced production of globin chain results in beta thalassemia, where the unpaired alpha chains precipitates in red cell precursors leading to ineffective erythropoiesis and reduced RBC survival. Both HH and beta thalassemia condition results in rapid accumulation of iron lead to iron overload in tissues and organs. The study aims to analyze the frequency of <italic>HFE</italic> variants among beta thalassemia cases and their effect on iron overload. The frequency of three <italic>HFE</italic> variants C282Y, H63D, S65C was analyzed by PCR RFLP method among Beta Thalassemia Trait (BTT) (n = 203), Beta Thalassemia Major (BTM) (n = 19) and age and sex-matched control samples (n = 200). The present study furnished allele frequency of H63D variant in BTT, BTM and controls 8.13, 15.8 and 6% respectively. Ten out of 33 heterozygous H63D variants exhibited iron overload with higher ferritin levels indicating <italic>HFE</italic> variant might aggravate the absorption of iron. The C282Y variant was present in heterozygous state in 1 case among beta thalassemia carriers. The C282Y variant was absent among BTM and control cases. S65C <italic>HFE</italic> variant was absent in the present study. Iron overload was completely absent in the control cases among all three <italic>HFE</italic> genotypes. Hence it is inferred from the present investigation, analysis of <italic>HFE</italic> genes and iron status will remarkably help to reason out the probable reason behind the iron status and support in proper management of beta thalassemia cases.</p> </abstract>

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Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany

Human Genetics ◽

10.1007/s004390050701 ◽

1998 ◽

Vol 102 (3) ◽

pp. 332 ◽

Cited By ~ 26

Author(s):

P. Jézéquel ◽

M. Bargain ◽

F. Lellouche ◽

F. Geffroy ◽

I. Dorval

Keyword(s):

Local Population ◽

Hereditary Hemochromatosis ◽

Gene Mutations ◽

Allele Frequencies ◽

Hemochromatosis Gene

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Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile

Acta Haematologica ◽

10.1159/000511551 ◽

2020 ◽

pp. 1-12

Author(s):

Heidi Kristine Grønlien ◽

Trine Eker Christoffersen ◽

Camilla Furlund Nystrand ◽

Lamya Garabet ◽

Terje Syvertsen ◽

...

Keyword(s):

Gene Expression ◽

Hereditary Hemochromatosis ◽

Genetic Profile ◽

C282y Homozygote ◽

Markers Of Inflammation ◽

Disease Characteristics ◽

Hemochromatosis Gene ◽

Serum Biochemical ◽

Disease Signatures ◽

First Time

Background: Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is characterized by downregulation of hepcidin synthesis, leading to increased intestinal iron absorption. Objectives: The objectives were to characterize and elucidate a possible association between gene expression profile, hepcidin levels, disease severity, and markers of inflammation in HFE-associated HH patients. Methods: Thirty-nine HFE-associated HH patients were recruited and assigned to 2 groups according to genetic profile: C282Y homozygotes in 1 group and patients with H63D, as homozygote or in combination with C282Y, in the other group. Eleven healthy first-time blood donors were recruited as controls. Gene expression was characterized from peripheral blood cells, and inflammatory cytokines and hepcidin-25 isoform were quantified in serum. Biochemical disease characteristics were recorded. Results: Elevated levels of interleukin 8 were observed in a significant higher proportion of patients than controls. In addition, compared to controls, gene expression of ζ-globin was significantly increased among C282Y homozygote patients, while gene expression of matrix metalloproteinase 8, and other neutrophil-secreted proteins, was significantly upregulated in patients with H63D. Conclusion: Different disease signatures may characterize HH patients according to their HFE genetic profile. Studies on larger populations, including analyses at protein level, are necessary to confirm these findings.

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Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia

Medical Principles and Practice ◽

10.1159/000481782 ◽

2017 ◽

Vol 26 (5) ◽

pp. 427-432

Author(s):

Sahar ElAoud ◽

Arwa Kamoun ◽

Nadia Mahfoudh ◽

Aida Charfi ◽

Mouna Snoussi ◽

...

Keyword(s):

Human Leukocyte Antigen ◽

Human Leukocyte Antigen Class ◽

Hereditary Hemochromatosis ◽

Gene Mutations ◽

Human Leukocyte ◽

Class I ◽

The South ◽

Leukocyte Antigen ◽

Oral Ulcers ◽

Hemochromatosis Gene

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C282Y and H63D Mutation Frequencies in a Population from Central Spain

Disease Markers ◽

10.1155/2001/350460 ◽

2001 ◽

Vol 17 (2) ◽

pp. 111-114 ◽

Cited By ~ 13

Author(s):

S. Alvarez ◽

M. S. Mesa ◽

F. Bandrés ◽

E. Arroyo

Keyword(s):

Hereditary Hemochromatosis ◽

Gene Mutations ◽

Epidemiological Data ◽

Hfe Gene ◽

Mediterranean Populations ◽

H63d Mutation ◽

Pcr Rflp ◽

Hemochromatosis Gene ◽

Ethidium Bromide Staining ◽

Spanish Populations

Objectives:To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula.Methods:DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzimes were Snab I and Bcl I for C282Y and H63D, respectively. Results were visualized with Ethidium Bromide staining after gel electrophoresis.Results and discussion:C282Y frequency was 0.02 and that of H63D was 0.16. Result for C282Y mutation falls within the range of variation of the Mediterranean populations. H63D frequency agrees with those reported for other European populations. In both cases frequencies obtained are the lowest of compared Spanish data.Conclusions:This study is useful to compare expected versus presented C282Y and H63D frequencies in Spanish populations and to contribute to the knowledge of Spanish variability, rarely analyzed until now for HFE gene mutations.

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