α Thalassemia british type (αα/--BRIT) in an australian family

Pathology ◽  
1986 ◽  
Vol 18 (2) ◽  
pp. 193-195 ◽  
Author(s):  
Thomas Wilkinson ◽  
J. Yakas ◽  
H. Kronenberg ◽  
R.J. Trent
Keyword(s):  
Pathology ◽  
1987 ◽  
Vol 19 (1) ◽  
pp. 62-63 ◽  
Author(s):  
Howard Gurney ◽  
Ibrahim Baig ◽  
Susan Gordon ◽  
Kiran Phadke ◽  
Heather Kearsley ◽  
...  

1967 ◽  
Vol 1 (18) ◽  
pp. 907-910 ◽  
Author(s):  
T. Wilkinson ◽  
H. Kronenberg ◽  
W. A. Isaacs ◽  
H. Lehmann

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.


1992 ◽  
Vol 28 (2) ◽  
pp. 184-189 ◽  
Author(s):  
A. M. TURNER ◽  
V. A. BERDOUKAS ◽  
V. H. TOBIAS ◽  
J. B. ZIEGLER ◽  
I. R. TOOGOOD ◽  
...  

2018 ◽  
Vol 46 (4) ◽  
pp. 590-607 ◽  
Author(s):  
Troy E. McEwan ◽  
Daniel E. Shea ◽  
James R. P. Ogloff

This study describes the rationale, development, and validation of the Victoria Police Screening Assessment for Family Violence Risk (VP-SAFvR). The actuarial instrument was developed on a sample of 24,446 Australian police reports from 2013-2014. Information from each report and criminal histories of those involved were collected with 12-month follow-up, and binary logistic regression used to develop an improper predictive model. The selected VP-SAFvR cut-off score correctly identified almost three quarters of cases with further reports, while half of those without were accurately excluded. It was effective for frontline police triage decision-making, with few screened-out cases reporting further family violence, while those screened-in required additional risk assessment. Predictive validity was adequate and consistent across family relationships and demographic groups, although it was less effective in predicting future family violence reports involving same-sex couples or child perpetrators. Further evaluation in a field trial is necessary to determine the validity of the VP-SAFvR in practice.


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