Literature DB >> 10076789

Wilson's disease with concomitant beta thalassaemia and factor V deficiency.

E Giannini1, A Fasoli, F Botta, R Testa.   

Abstract

A case of late presentation of Wilson's disease in a female with a thalassaemic trait is reported in whom diagnosis of Factor V deficiency was made. Despite ignoring the disease for years the patient had compensated cirrhosis. She had a dramatic family history of Wilson's disease affecting at least two brothers and two sisters. Moreover, her haematologic problems were not clinically revealed until diagnosis had been made on the basis of suspicions arising from laboratory results. The therapy of choice for hepatolenticular degeneration was not feasible due to the patient's refusal. Zinc salts were, therefore, administered. To our knowledge the association of such rare genetic disorders has not been reported.

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Year:  1998        PMID: 10076789

Source DB:  PubMed          Journal:  Ital J Gastroenterol Hepatol        ISSN: 1125-8055


  2 in total

1.  Sickle cell-β thalassemia with concomitant hemophilia A: a rare presentation.

Authors:  Pratibha Dhiman; Rahul Chaudhary; Krishna Sudha
Journal:  Blood Res       Date:  2015-12-21

2.  Report of a rare co-incidence of congenital factor V deficiency and thalassemia intermedia in a family.

Authors:  Yasser Abou Mourad; Ali Shamseddine; Ayad Hamdan; Susane Koussa; Ali Taher
Journal:  Ann Saudi Med       Date:  2004 Jul-Aug       Impact factor: 1.526

  2 in total

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