Literature DB >> 2372272

Familial iron overload with possible autosomal dominant inheritance.

R J Eason1, P C Adams, C E Aston, J Searle.   

Abstract

A 96 member Melanesian kindred with 31 cases of iron overload is reported. Liver biopsies from 19 of these patients showed features similar to those of genetic haemochromatosis in Caucasians, but in contrast to the previous reported HLA-linked autosomal recessive pattern of inheritance for haemochromatosis, this family shows a pattern that is most consistent with autosomal dominant inheritance. This is suggested by involvement of three and possibly four consecutive generations, with a high frequency of transmission from parents to children and equal gender distribution. Linkage and segregation analysis supported dominant inheritance, with no demonstrable HLA linkage.

Entities:  

Mesh:

Substances:

Year:  1990        PMID: 2372272     DOI: 10.1111/j.1445-5994.1990.tb01024.x

Source DB:  PubMed          Journal:  Aust N Z J Med        ISSN: 0004-8291


  9 in total

1.  Global prevalence of putative haemochromatosis mutations.

Authors:  A T Merryweather-Clarke; J J Pointon; J D Shearman; K J Robson
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 2.  HFE and non-HFE hemochromatosis.

Authors:  Gregory J Anderson; Lawrie W Powell
Journal:  Int J Hematol       Date:  2002-10       Impact factor: 2.490

3.  Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis.

Authors:  A P Walker; D F Wallace; J Partridge; A B Bomford; J S Dooley
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

Review 4.  The Regulation of Iron Absorption and Homeostasis.

Authors:  Daniel F Wallace
Journal:  Clin Biochem Rev       Date:  2016-05

5.  A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.

Authors:  K E Arden; D F Wallace; J L Dixon; L Summerville; J W Searle; G J Anderson; G A Ramm; L W Powell; V N Subramaniam
Journal:  Gut       Date:  2003-08       Impact factor: 23.059

Review 6.  Non-HFE haemochromatosis.

Authors:  Daniel-F Wallace; V-Nathan Subramaniam
Journal:  World J Gastroenterol       Date:  2007-09-21       Impact factor: 5.742

Review 7.  Recent advances in understanding haemochromatosis: a transition state.

Authors:  K J H Robson; A T Merryweather-Clarke; E Cadet; V Viprakasit; M G Zaahl; J J Pointon; D J Weatherall; J Rochette
Journal:  J Med Genet       Date:  2004-10       Impact factor: 6.318

8.  Non-HLA-linked hemochromatosis in a Chinese woman.

Authors:  M Oliver; L Scully; C Guiraudon; P C Adams
Journal:  Dig Dis Sci       Date:  1995-07       Impact factor: 3.199

Review 9.  Ferroportin disease: pathogenesis, diagnosis and treatment.

Authors:  Antonello Pietrangelo
Journal:  Haematologica       Date:  2017-11-03       Impact factor: 9.941

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.