{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:22:23Z","timestamp":1760188943585,"version":"3.40.4"},"reference-count":7,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2008]]},"abstract":"<jats:p>We report the case of a 54-year-old patient presenting with a typical pernicious anaemia. His mother was diagnosed with unquestionable pernicious anaemia 5 years previously. Serum ferritin was strongly increased (1,160 \u00b5g\/l, normal range 29\u2013380), with a transferrin saturation of 95%. We found a homozygous C282Y mutation of the HFE gene in our patient, his mother being heterozygous. The son of our patient was compound C282Y\/H63D heterozygous without detectable pernicious anaemia. This seems to be the first report of an association between familial pernicious anaemia and hereditary haemochromatosis. The simultaneous occurrence of the 2 diseases in the same patient helps to delineate the relative contribution of each of them to iron metabolism and erythropoiesis: iron overload was only moderately increased and responded rapidly to phlebotomies, whereas haemochromatosis did not modify the cytologic presentation of pernicious anaemia.<\/jats:p>","DOI":"10.1159\/000112839","type":"journal-article","created":{"date-parts":[[2008,1,4]],"date-time":"2008-01-04T13:12:59Z","timestamp":1199452379000},"page":"12-14","source":"Crossref","is-referenced-by-count":2,"title":["Association of Familial Pernicious Anaemia and Hereditary Haemochromatosis"],"prefix":"10.1159","volume":"119","author":[{"given":"B\u00e9atrice","family":"Bonafoux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Henry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Delfour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Brun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Mercier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Jourdan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Carillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Funakoshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Paul","family":"Bureau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Blanc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Lavabre-Bertrand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,1,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0749.2005.00242.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.med.57.121304.131310"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-2143%2800%2970026-6"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1970.tb01432.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1600-0749.2003.00032.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.20225"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.257.8.1081"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/112839","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/112839","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:32:41Z","timestamp":1745461961000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000112839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,3,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000112839","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2008]]}}}