The Incidence And Prevalence Of Iron Overload In Homozygous...

• American College of Gastroenterology
• Clinical and Translational Gastroenterology
• ACG Case Reports Journal

• American College of Gastroenterology Previous Article
• Next Article

Article as EPUB Export All Images to PowerPoint File Add to My Favorites

Colleague's E-mail is Invalid

Your Name: Colleague's Email: Separate multiple e-mails with a (;). Message: Thought you might appreciate this item(s) I saw in Official journal of the American College of Gastroenterology | ACG.

Your message has been successfully sent to your colleague.

Some error has occurred while processing your request. Please try after some time.

End Note

Procite

Reference Manager

Save my selection

Abstracts: LIVER

Phua, Chai Wye MD; Borgaonkar, Mark MD

Author Information

Memorial University of Newfoundland and Labrador, St. John's, NF, Canada.

American Journal of Gastroenterology 107():p S174-S175, October 2012.

• Free

Purpose: This study aims to assess the proportion of iron overload and ironoverload-related disease and determine the incidence of progressive iron overload in homozygous C282Y mutation in Newfoundland and Labrador.

Methods: We conducted a retrospective study of all individuals (n = 360) diagnosed with homozygous C282Y mutation from 1999-2009 in Newfoundland and Labrador. From electronic health records, we documented clinical data, biochemical data, and treatment status with phlebotomy for each patient. Biochemical data included serum ferritin, transferrin saturation, iron level, aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin, albumin, and International Normalized Ratio (INR). We started recording the data at baseline and continued each year if available until March, 2012. Iron overload and iron overload-related diseases of each patient were classified as per the definitions given in the previously published HealthIron study to determine stage of disease progression. SPSS version 19.0 software was used for descriptive and inferential statistics.

Results: At genotyping, 25 cases (8%) had iron overload related disease, 39 cases (12%) had documented iron overload, 143 cases (45%) had provisional iron overload, and 111 cases (35%) had no evidence of iron overload. At end of follow-up (mean 6.87 ± 4.27 years), 43 cases (14%) of the cohort had iron overload and 39 cases (12%) had iron-overload-related disease. Of those 39 cases, 8% were women and 15.3% were men. A total of 21 cases (7%) showed progression to documented iron overload and iron overload related disease from provisional and no evidence of iron overload at baseline during follow-up. Of the 21 cases, 16 cases (76%) were male, 5 cases (24%) were female and 19 cases (90%) had ferritin levels of more than a 1000μg/L. A small subset of 16 cases did not undergo phlebotomy and showed no progression of iron overload categories at the end of follow-up.

Conclusion: From our cohort of homozygous C282Y, we found 15.3% of men and 8% of women who showed clinically significant iron overload. This finding was mostly consistent with previous studies. However, our cohort did reveal a larger proportion of females who had clinically significant iron overload as compared to the HealthIron study. This suggests that other inherent factors such as genetic factors or environmental factors may explain the variability in disease penetrance.

© The American College of Gastroenterology 2012. All Rights Reserved.View full article text

Source

The Incidence and Prevalence of Iron Overload in Homozygous C282Y Mutation in Newfoundland and Labrador: 415 Official journal of the American College of Gastroenterology | ACG107:S174-S175, October 2012.

• Full-Size
• Email
• + Favorites
• Export
• View in Gallery

Colleague's E-mail is Invalid

Your Name: Colleague's Email: Separate multiple e-mails with a (;). Message: Thought you might appreciate this item(s) I saw in Official journal of the American College of Gastroenterology | ACG.

Your message has been successfully sent to your colleague.

Some error has occurred while processing your request. Please try after some time.