Literature DB >> 32436012

A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China.

Mengqi Xu1, Xiaosu Zhao2,3, Feng Sun4, Rongrong Zhu5.   

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Year:  2020        PMID： 32436012     DOI： 10.1007/s00277-020-04085-4

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  11 in total

1.  Iron deficiency anaemia and cataracts in a patient with haemochromatosis.

Authors:  Kai-Henrik Peiffer; Moritz Niemeyer; Anna Buslau; Thomas Kohnen; Martina Ulrike Muckenthaler; Stefan Zeuzem; Christoph Sarrazin
Journal:  Gut       Date:  2013-07-18       Impact factor: 23.059

2.  A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome.

Authors:  Karen Wong; Yousef Barbin; Subrata Chakrabarti; Paul Adams
Journal:  Can J Gastroenterol       Date:  2005-04       Impact factor: 3.522

3.  Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family.

Authors:  Axel Rüfer; Jeremy P Howell; Alex P Lange; Raina Yamamoto; Julia Heuscher; Michael Gregor; Walter A Wuillemin
Journal:  Eur J Haematol       Date:  2011-04-06       Impact factor: 2.997

4.  A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

Authors:  Caroline Kannengiesser; Anne-Marie Jouanolle; Gilles Hetet; Annick Mosser; Françoise Muzeau; Dominique Henry; Edouard Bardou-Jacquet; Martine Mornet; Pierre Brissot; Yves Deugnier; Bernard Grandchamp; Carole Beaumont
Journal:  Haematologica       Date:  2009-01-27       Impact factor: 9.941

5.  A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Authors:  Kathryn P Burdon; Shiwani Sharma; Celia S Chen; David P Dimasi; David A Mackey; Jamie E Craig
Journal:  Hum Mutat       Date:  2007-07       Impact factor: 4.878

6.  Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

Authors:  Laura Cremonesi; Barbara Foglieni; Isabella Fermo; Anna Cozzi; Rita Paroni; Giuseppina Ruggeri; Silvana Belloli; Sonia Levi; Silvia Fargion; Maurizio Ferrari; Paolo Arosio
Journal:  Haematologica       Date:  2003-10       Impact factor: 9.941

7.  The case of a 1-year-old girl with hereditary hyperferritinemia cataract syndrome.

Authors:  Niels Rochow; Natalie Bachmaier; Frank Tost; James F Beck; Toralf Bernig
Journal:  Pediatr Hematol Oncol       Date:  2009 Apr-May       Impact factor: 1.969

8.  A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.

Authors:  D Girelli; O Olivieri; L De Franceschi; R Corrocher; G Bergamaschi; M Cazzola
Journal:  Br J Haematol       Date:  1995-08       Impact factor: 6.998

9.  Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.

Authors:  C Beaumont; P Leneuve; I Devaux; J Y Scoazec; M Berthier; M N Loiseau; B Grandchamp; D Bonneau
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330

10.  Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Authors:  Sara Luscieti; Gabriele Tolle; Jessica Aranda; Carmen Benet Campos; Frank Risse; Érica Morán; Martina U Muckenthaler; Mayka Sánchez
Journal:  Orphanet J Rare Dis       Date:  2013-02-19       Impact factor: 4.123
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