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.

Keywords:
Hereditary haemochromatosis, Iron metabolism, Pernicious anaemia
1.
Chanarin P: The Megaloblastic Anaemias. Oxford, Blackwell, 1969, p 482.
2.
Gueant J, Candito M, Andres E, Van Obberghen E, Nicolas J: Familial pernicious anaemia with hyperhomocysteinaemia in recurrent early pregnancy loss. Thromb Haemost 2004;92:1147–1149.
3.
Laberge G, Mailloux C, Gowan K, Holland P, Bennett D, Fain P, Spritz R: Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res 2005;18:300–305.
4.
Beutler E: Hemochromatosis: genetics and pathophysiology. Ann Rev Med 2006;57:331–347.
5.
Attout H, Guez S, Sériès C: Hémochromatose génétique et anémie de Biermer. Rev Med Interne 2004;25:759–761.
6.
Barton J, Bertoli L, Rothenberg B: Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content. J Lab Clin Med 2000;135:96–104.
7.
Feeney G, Carter K, Masters G, Jackson H, Cavil I, Worwood M: Changes in erythropoiesis in hereditary hemochromatosis are not mediated by HFE expression in nucleated red cells. Haematologica 2005;90:180–187.
8.
Pollock J, Fenton E, Barrett K: Familial autoimmune haemolytic anaemia associated with rheumatoid arthritis and pernicious anaemia. Br J Haematol 1970;18:171–182.
9.
Alkhateeb A, Fain P, Thody A, Bennett D, Spritz R: Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 2003;16:208–214.
10.
Nicodeme F, Geffroy S, Conti M, Delobel B, Soenen V, Grardel N, Porte H, Copin M, Lai J, Andrieux J: Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation (14;20)(q24.1; p12.3). Genes Chromosomes Cancer 2005;44:154–160.
11.
Carmel R, Weiner J, Johnson C: Iron deficiency occurs frequently in patients with pernicious anemia. JAMA 1987;257:1081–1083.
12.
Dagg J, Golberg A, Gibbs W, Anderson J: Detection of latent pernicious anaemia in iron-deficiency anaemia. Br Med J 1966;2:619.
13.
Hershko C, Hoffbrand A, Keret D, Souroujon M, Maschler I, Monselise Y, Lahad A: Role of autoimmune gastritis, Helicobacter pylori and celiac disease in refractory or unexplained iron deficiency anemia. Haematologica 2005;90:585–595.
© 2008 S. Karger AG, Basel
2008
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.