Literature DB >> 21647608

Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia.

M L H Cuijpers1,2, D J van Spronsen2,3, P Muus1, B C J Hamel4, D W Swinkels5.   

Abstract

We present a patient with iron overload, who was initially diagnosed with hereditary haemochromatosis. Family analysis, however, established that the iron overload was secondary to congenital sideroblastic anaemia. The patient died of a hepatocellular carcinoma, likely a complication of iron overload, despite phlebotomies. Increased awareness, as well as development of evidence-based clinical guidelines, is required for timely diagnosis and adequate treatment.

Entities:  

Mesh:

Year:  2011        PMID: 21647608     DOI: 10.1007/s12185-011-0875-y

Source DB:  PubMed          Journal:  Int J Hematol        ISSN: 0925-5710            Impact factor:   2.490


  22 in total

1.  EASL clinical practice guidelines for HFE hemochromatosis.

Authors: 
Journal:  J Hepatol       Date:  2010-04-18       Impact factor: 25.083

2.  Iron absorption and loading in beta-thalassaemia intermedia.

Authors:  M J Pippard; S T Callender; G T Warner; D J Weatherall
Journal:  Lancet       Date:  1979-10-20       Impact factor: 79.321

3.  Hepcidin in iron overload disorders.

Authors:  George Papanikolaou; Michalis Tzilianos; John I Christakis; Dionisios Bogdanos; Konstantina Tsimirika; Julie MacFarlane; Y Paul Goldberg; Nikos Sakellaropoulos; Tomas Ganz; Elizabeta Nemeth
Journal:  Blood       Date:  2005-01-25       Impact factor: 22.113

4.  Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

Authors:  P D Cotter; A May; L Li; A I Al-Sabah; E J Fitzsimons; M Cazzola; D F Bishop
Journal:  Blood       Date:  1999-03-01       Impact factor: 22.113

5.  Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine.

Authors:  Caterina Borgna-Pignatti; Simone Rugolotto; Piero De Stefano; Huaqing Zhao; Maria Domenica Cappellini; Giovanni Carlo Del Vecchio; Maria Antonietta Romeo; Gian Luca Forni; Maria Rita Gamberini; Roberta Ghilardi; Antonio Piga; Avital Cnaan
Journal:  Haematologica       Date:  2004-10       Impact factor: 9.941

6.  Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.

Authors:  James C Barton; Pauline L Lee
Journal:  Blood Cells Mol Dis       Date:  2006-03-15       Impact factor: 3.039

7.  Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency.

Authors:  Armin Finkenstedt; Paola Bianchi; Igor Theurl; Wolfgang Vogel; Derrick R Witcher; Victor J Wroblewski; Anthony T Murphy; Alberto Zanella; Heinz Zoller
Journal:  Br J Haematol       Date:  2008-12-20       Impact factor: 6.998

8.  High-sensitive radioimmunoassay for human serum hepcidin.

Authors:  Nicolai Grebenchtchikov; Anneke J Geurts-Moespot; Joyce J C Kroot; Martin den Heijer; Harold Tjalsma; Dorine W Swinkels; Fred G J Sweep
Journal:  Br J Haematol       Date:  2009-06-03       Impact factor: 6.998

9.  Cirrhotic process, liver cell carcinoma and extrahepatic malignant tumors in idiopathic haemochromatosis. Study of 71 patients treated with venesection therapy.

Authors:  G Tiniakos; R Williams
Journal:  Appl Pathol       Date:  1988

10.  Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells.

Authors:  Toshihiko Tanno; Prashanth Porayette; Orapan Sripichai; Seung-Jae Noh; Colleen Byrnes; Ajoy Bhupatiraju; Y Terry Lee; Julia B Goodnough; Omid Harandi; Tomas Ganz; Robert F Paulson; Jeffery L Miller
Journal:  Blood       Date:  2009-05-04       Impact factor: 22.113

View more
  1 in total

1.  The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.

Authors:  Lefkothea C Papadopoulou; Asterios S Tsiftsoglou
Journal:  Pharmaceuticals (Basel)       Date:  2013-01-07
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.