Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)

Clinical Genetics
P GuixJ A Castro

Abstract

The HFE gene contains two main missense mutations: C282Y and H63D. Individuals with these mutations carry a risk of developing hereditary haemochromatosis (HH). The common form of this disease is due to homozygosity for the C282Y mutation. Population studies have shown the variation of the prevalence of these mutations in different countries and ethnic groups. The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases. A total of 1330 Balearic chromosomes were analyzed. The results showed that the populations of the Balearic Islands were not homogeneous. No C282Y carriers were observed in a group of descendants of Majorcan Jews (Chuetas) and the frequency was very low in Minorca (1.2%) in comparison with the other islands of Majorca (4.7%) and Ibiza (6.5%). The carrier frequency of the H63D mutation was similar in the three islands and very high (43.1%) in the descendants of Majorcan Jews. The study of patients was carried out in 129 individuals. The homozygous C282Y genotype was the principal one involved in hereditary haemochromatosis (90%), w...Continue Reading

References

Apr 1, 1988·Clinical Genetics·N MilmanK Fenger
Jan 1, 1980·The Diabetes Educator·A L Matthews
Nov 1, 1996·Nature Genetics·E C JazwinskaT P Walsh
Nov 1, 1996·Nature Genetics·A M JouanolleV David
Jan 1, 1996·Blood Cells, Molecules & Diseases·E BeutlerM Chorney
May 1, 1997·The New England Journal of Medicine·M SantosJ J Marx
Apr 1, 1997·Journal of Medical Genetics·A T Merryweather-ClarkeK J Robson
Jan 1, 1997·Blood Cells, Molecules & Diseases·E Beutler, T Gelbart
Aug 1, 1997·Blood Cells, Molecules & Diseases·R L ShamP D Phatak
Jun 9, 1998·Annals of the New York Academy of Sciences·F GilbertM P Osborne
Aug 27, 1998·Journal of Medical Genetics·M BaigetE Gimferrer
Dec 31, 1998·Gastroenterology·B R BaconJ H Hoofnagle
Jun 26, 1999·Annals of Internal Medicine·B R BaconR K Wolff
Sep 2, 1999·The New England Journal of Medicine·J K OlynykL W Powell
Jul 25, 2000·Clinical Genetics·L SotoD Valverde
Aug 23, 2000·Genetic Testing·G Lucotte, G Mercier
Aug 23, 2000·Genetic Testing·M SánchezR Oliva
Aug 23, 2000·Genetic Testing·A T Merryweather-ClarkeK J Robson
Oct 6, 2000·Journal of Hepatology·P AdamsL W Powell

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Citations

May 24, 2003·Journal of Hepatology·Mayka SánchezRafael Oliva
Sep 16, 2003·Blood Cells, Molecules & Diseases·Gérard Lucotte, Florent Dieterlen
Aug 31, 2010·Annals of Epidemiology·Adriana Maria Neghina, Andrei Anghel
Oct 18, 2006·European Journal of Haematology·Carles de DiegoPedro Martínez-Castro
Mar 2, 2012·Clinical Genetics·H López-EscribanoA Picornell
Nov 30, 2011·Hemoglobin·Herminio López-EscribanoAntònia Picornell
Jul 15, 2015·European Journal of Human Genetics : EJHG·Graça PortoSteve Keeney
May 18, 2010·Journal of Hepatology·UNKNOWN European Association For The Study Of The Liver
Feb 24, 2015·Frontiers in Genetics·Inês NogueiroLuis Alvarez

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