Association of familial pernicious anaemia and hereditary haemochromatosis.
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.
Bonafoux
Béatrice
B
Laboratoire d'Histologie, Université de Montpellier-I, Faculté de Médecine de Montpellier-Nîmes et Laboratoire de Cytologie clinique et Cytogénétique, CHU, Nîmes, France.
Henry
Laurent
L
Delfour
Christophe
C
Arnaud
Anne
A
Brun
Sophie
S
Mercier
Eric
E
Jourdan
Eric
E
Carillo
Serge
S
Funakoshi
Nathalie
N
Bureau
Jean Paul
JP
Blanc
Pierre
P
Lavabre-Bertrand
Thierry
T
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
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014805:Vitamin B 12