title: Association of familial pernicious anaemia and hereditary haemochromatosis.
abstract: 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 microg/l, normal range 29-380), 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.
authors.affiliation: Laboratoire d'Histologie, Université de Montpellier-I, Faculté de Médecine de Montpellier-Nîmes et Laboratoire de Cytologie clinique et Cytogénétique, CHU, Nîmes, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Bonafoux
authors.forename: Laurent
authors.initials: L
authors.lastname: Henry
authors.forename: Christophe
authors.initials: C
authors.lastname: Delfour
authors.forename: Anne
authors.initials: A
authors.lastname: Arnaud
authors.forename: Sophie
authors.initials: S
authors.lastname: Brun
authors.forename: Eric
authors.initials: E
authors.lastname: Mercier
authors.forename: Eric
authors.initials: E
authors.lastname: Jourdan
authors.forename: Serge
authors.initials: S
authors.lastname: Carillo
authors.forename: Nathalie
authors.initials: N
authors.lastname: Funakoshi
authors.forename: Jean Paul
authors.initials: JP
authors.lastname: Bureau
authors.forename: Pierre
authors.initials: P
authors.lastname: Blanc
authors.forename: Thierry
authors.initials: T
authors.lastname: Lavabre-Bertrand
mesh_terms: D000328:Adult; D000752:Anemia, Pernicious / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D006432:Hemochromatosis / Q000150:complications* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D014805:Vitamin B 12 / Q000008:administration & dosage / Q000097:blood / Q000627:therapeutic use
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014805:Vitamin B 12