Skip this Video
Download Presentation

Loading in 2 Seconds...

play fullscreen
1 / 1

Introduction - PowerPoint PPT Presentation

  • Uploaded on


I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
Download Presentation

PowerPoint Slideshow about ' Introduction ' - illana-davidson

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.

- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript

Homozygous mutations of the HFE genelead to hemochromatosis. In Europe, itismainlyassociatedwith the C282Y mutation. Other mutations are involved in the disturbance of the ironmetabolism, particularly H63D. Previous international studiesrevealsignificantfrequency, notably for the H63D mutation, amongEuropean populations.


No C282Y mutation has been found. However, at the heterozygotic state, three H63D mutations have been identified in the Melanesian group (2 women and 1 man) and four in the Polynesian group (1 woman and 3 men). There is no significant difference between both groups. The frequency in the general Oceanian population is 7/119 and more precisely 3/66 in the Melanasian group and 4/53 in the Polynesian group. Concerning the biological datas, hemoglobin levels of mutated male subjects appear slightly higher than the levels of non mutated male participants (p=0,09). Non mutated subjects have lower Stfr level than the mutated subjects (p=0.03). The mutated subjects don’t have any difference with the non mutated participants for the glycated hemoglobin.


Wecarried out a preliminarystudy in 2011 aimingatmeasuring the HFE mutations frequencyamong an Oceanian population from South Pacific in New−Caledonia. Eachvolunteerprovided a full written consent, approved by the Necker HospitalEthicCommittee. The blood tests weredoneat the elbowfold. The followingbiological analyses werecompleted on the bloodsamples: completeblood count, serumiron, transferrin saturation, ferritin, glycatedhemoglobin. Among the collectedbloodsamples, 2 EDTA tubes per subjectwererepatriated for DNA extraction and geneassays in the IBT laboratory.

HFE MUTATIONS IN OCEANIAN PEOPLE (MELANESIAN AND POLYNESIAN)  G. Dine 1,2, G. Fumagalli 2, L.A Marquet 1, F. Van Lierde 2, V. Genty 2, R. Donnadieu 3, Y. Barguil 4,, S. Mermond 5, O. Hermine 1,6, J.F Toussaint 1,7 1-IRMES, Paris − 2-IBT, Troyes − 3-Direction Jeunesse et Sports de Nouvelle−Calédonie, Nouméa − 4-Hôpital Gaston Bourret, Nouméa − 5-Institut Pasteur de Nouvelle−Calédonie, Nouméa − 6-Hôpital Necker, Paris − 7-AP−HP, Hôtel−Dieu, Paris


This preliminary work has been done among an Oceanian population in differentiating Melanesian from Polynesian origin. The C282Y, the HFE allele most commonly associated with the hereditary hemochromatosis among persons of European descent, has not been identified in the Oceanian population. But we highlight the H63D at the heterozygotic state without any deleterious consequence on the iron metabolism or the glycemic regulation.

The study included 119 subjects (66 Melanesian and 53 Polynesian), range 13−35 years (mean age 23±4.47). The participants were considered of Melanesian or Polynesian origin on the basis of two−generation autochthonous ancestry. Subjects born from miscegenation were excluded, in particularly European. The repartition gave a male/female ratio of 0.78 for Melanesian subjects (29 men and 37 women) and of 1.4 for Polynesian subjects (31 men and 22 women).

The genetic assays done with the Vienna Lab method covered the following mutations: HFE mutations (V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q283P), TFR2 gene (E60X, M172K, Y250X, AVAQ594−597del) and FPN1 gene (N144H, V162del).

To assess the different biological parameters between mutated and non mutated subjects, we conducted t−tests.


This work is the first to inform about the situation in the native population of Pacific. This study suggests the presence of the H63D mutation in subjects with a lower frequency than in the already studied European populations.

In « BioIron 2013 » Ed. International BioIron Society, 2013, 276 (abstract)