Association of Familial Pernicious Anaemia and Hereditary Haemochromatosis
| Autor: | Sophie Brun, Nathalie Funakoshi, Serge Carillo, Jean Paul Bureau, Béatrice Bonafoux, Pierre Blanc, Eric Mercier, Eric Jourdan, Laurent Henry, Christophe Delfour, A. Arnaud, Thierry Lavabre-Bertrand |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Hereditary haemochromatosis medicine.medical_specialty Anemia Gastroenterology Pernicious anaemia hemic and lymphatic diseases Internal medicine Anemia Pernicious Humans Medicine Hemochromatosis Protein Serum ferritin business.industry Histocompatibility Antigens Class I Membrane Proteins Hematology General Medicine Middle Aged medicine.disease Vitamin B 12 Mutation Mutation (genetic algorithm) Hemochromatosis business |
| Zdroj: | Acta Haematologica. 119:12-14 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000112839 |
| Popis: | 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 µg/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. |
| Databáze: | OpenAIRE |
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