Document Detail

Association of familial pernicious anaemia and hereditary haemochromatosis.
MedLine Citation:
PMID:  18176074     Owner:  NLM     Status:  MEDLINE    
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.
Béatrice Bonafoux; Laurent Henry; Christophe Delfour; Anne Arnaud; Sophie Brun; Eric Mercier; Eric Jourdan; Serge Carillo; Nathalie Funakoshi; Jean Paul Bureau; Pierre Blanc; Thierry Lavabre-Bertrand
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-01-04
Journal Detail:
Title:  Acta haematologica     Volume:  119     ISSN:  1421-9662     ISO Abbreviation:  Acta Haematol.     Publication Date:  2008  
Date Detail:
Created Date:  2008-03-11     Completed Date:  2008-03-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0141053     Medline TA:  Acta Haematol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  12-4     Citation Subset:  IM    
Copyright Information:
2008 S. Karger AG, Basel
Laboratoire d'Histologie, Université de Montpellier-I, Faculté de Médecine de Montpellier-Nîmes et Laboratoire de Cytologie clinique et Cytogénétique, CHU, Nîmes, France.
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MeSH Terms
Anemia, Pernicious / complications*,  drug therapy,  genetics
Hemochromatosis / complications*,  genetics
Histocompatibility Antigens Class I / genetics
Membrane Proteins / genetics
Middle Aged
Vitamin B 12 / administration & dosage,  blood,  therapeutic use
Reg. No./Substance:
0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 68-19-9/Vitamin B 12

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