scholarly journals Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study

Hepatology ◽  
2012 ◽  
Vol 55 (6) ◽  
pp. 1722-1726 ◽  
Author(s):  
Paul C. Adams ◽  
Mark Speechley ◽  
James C. Barton ◽  
Christine E. McLaren ◽  
Gordon D. McLaren ◽  
...  
Keyword(s):  
Iron Overload ◽  
Liver Transaminase ◽  
Screening Study ◽  
C282y Homozygosity

scholarly journals Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study

2015 ◽  
Vol 14 (3) ◽  
pp. 348-353 ◽  
Author(s):  
Paul C. Adams ◽  
James C. Barton ◽  
Helen Guo ◽  
David Alter ◽  
Mark Speechley
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Screening Study

scholarly journals Accuracy of Family History of Hemochromatosis or Iron Overload: The Hemochromatosis and Iron Overload Screening Study

2008 ◽  
Vol 6 (8) ◽  
pp. 934-938 ◽  
Author(s):  
R ACTON ◽  
J BARTON ◽  
L PASSMORE ◽  
P ADAMS ◽  
G MCLAREN ◽  
...  
Keyword(s):  
Family History ◽  
Iron Overload ◽  
Screening Study ◽  
History Of

scholarly journals Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study

2006 ◽  
Vol 8 (11) ◽  
pp. 681-687 ◽  
Author(s):  
Roger T Anderson ◽  
Lari Wenzel ◽  
Ann P Walker ◽  
Andrea Ruggiero ◽  
Ronald T Acton ◽  
...  
Keyword(s):  
Iron Overload ◽  
Screening Study

Correlation Between Decreased Serum Ferritin and Improved Liver Transaminases During Deferasirox (Exjade®) Treatment in Iron-Overloaded Patients with Myelodysplastic Syndromes.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3803-3803 ◽  
Author(s):  
Norbert Gattermann ◽  
Mathias Schmid ◽  
Agnès Guerci-Bresler ◽  
Matteo Della Porta ◽  
Kerry Taylor ◽  
...  
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Myelodysplastic Syndromes ◽  
Liver Dysfunction ◽  
Research Funding ◽  
Blood Chemistry ◽  
Hepatocellular Injury ◽  
Liver Transaminase ◽  
Important Indicator ◽  
Advisory Boards

Abstract Abstract 3803 Poster Board III-739 Background Transfusional iron overload can cause hepatocellular injury, which manifests as increased liver transaminase levels and, in some cases, may progress to cirrhosis. The once-daily oral iron chelator deferasirox (Exjade®) has been shown to reduce iron overload in patients with various transfusion-dependent anemias, and a previous analysis demonstrated a correlation between decreased iron overload and improved transaminase levels [Brissot P et al. Blood 2006;108(11):abst 3817]. As liver dysfunction is a common complication in patients with myelodysplastic syndromes (MDS), this analysis evaluates the relationship between serum ferritin (as a marker of iron overload) and alanine aminotransferase (ALT; as a marker of liver function) during deferasirox treatment in a large MDS population. Methods This analysis is based on data from iron overloaded MDS patients aged ≥2 years who were enrolled in the 1-year multicenter EPIC study; patients with a life expectancy <1 year were excluded. Patients initially received deferasirox 10–30 mg/kg/day, depending on the frequency of blood transfusions; 5–10 mg/kg/day dose adjustments (range 0–40 mg/kg/day) were made based on 3-month serum ferritin trends and safety markers. Serum ferritin and ALT were assessed monthly by standard blood chemistry examinations. Results In total, 341 patients with MDS (mean age 67.9 ± 11.4 years) were enrolled in the EPIC study. Mean actual deferasirox dose during treatment was 19.2 ± 5.4 mg/kg/day. Median serum ferritin at baseline, 3, 6, 9 and 12 months was 2730, 2358, 2210, 2076 and 1904 ng/mL, respectively, and the median change from baseline was significant at 12 months (P=0.0019). Mean ALT at the same time points was 59.7, 48.4, 42.0, 40.5 and 36.1 U/L, respectively; mean change from baseline in ALT at 12 months was also significant (P<0.0001; n=169). A significant correlation was observed between absolute change in serum ferritin and ALT from baseline to month 12 (P<0.0001; Figure), indicating that a mean decrease in serum ferritin of 500 ng/mL was associated with a mean decrease in ALT of 21.6 U/L. Conclusions In these chronically transfused MDS patients, deferasirox treatment produced a significant decrease in serum ferritin during 1 year of treatment. Improvements in ALT, which is an important indicator of hepatocellular injury, mirrored the reductions in serum ferritin and these changes were significantly correlated. Additional prospective studies are warranted to further investigate this association between iron burden and liver dysfunction in MDS. Disclosures: Gattermann: Novartis: Honoraria, Participation in Advisory Boards on deferasirox clinical trials. Habr:Novartis Pharmaceuticals: Employment. Domokos:Novartis Pharma AG: Employment. Roubert:Novartis Pharma AG: Employment. Fenaux:Celgene: Honoraria, Research Funding; Roche: Honoraria, Research Funding; Ortho Biotech: Honoraria, Research Funding; Amgen: Honoraria, Research Funding; Cephalon: Honoraria, Research Funding; Merck: Honoraria, Research Funding; Novartis: Honoraria, Research Funding.

Serial serum ferritin measurements in untreatedHFEC282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study

2008 ◽  
Vol 30 (4) ◽  
pp. 300-305 ◽  
Author(s):  
P. C. ADAMS ◽  
D. M. REBOUSSIN ◽  
J. C. BARTON ◽  
R. T. ACTON ◽  
M. SPEECHLEY ◽  
...  
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Screening Study ◽  
Serial Serum

scholarly journals HFEMutations in Caucasian Participants of the Hemochromatosis and Iron Overload Screening Study with Serum Ferritin Level <1000 μg/L

2013 ◽  
Vol 27 (7) ◽  
pp. 390-392 ◽  
Author(s):  
Paul C Adams ◽  
Christine E McLaren ◽  
Mark Speechley ◽  
Gordon D McLaren ◽  
James C Barton ◽  
...  
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Transferrin Saturation ◽  
Elevated Serum ◽  
Population Based ◽  
Ferritin Concentration ◽  
Post Test ◽  
Screening Study

BACKGROUND: Many patients referred for an elevated serum ferritin level <1000 μg/L are advised that they likely have iron overload and hemochromatosis.AIMS: To determine the prevalence ofHFEmutations in the hemochromatosis gene for 11 serum ferritin concentration intervals from 200 μg/L to 1000 μg/L in Caucasian participants in a primary care, population-based study.METHODS: The Hemochromatosis and Iron Overload Screening study screened 99,711 participants for serum ferritin levels, transferrin saturation and genetic testing for the C282Y and H63D mutations of theHFEgene. This analysis was confined to 17,160 male and 27,465 female Caucasian participants because theHFEC282Y mutation is rare in other races. Post-test likelihood was calculated for prediction of C282Y homozygosity from a ferritin interval. A subgroup analysis was performed in participants with both an elevated serum ferritin level and transferrin saturation.RESULTS: There were 3359 male and 2416 female participants with an elevated serum ferritin level (200 μg/L to 1000 μg/L for women, 300 μg/L to 1000 μg/L for men). There were 69 male (2.1%) and 87 female (3.6%) C282Y homozygotes, and the probability of being a homozygote increased as the ferritin level increased. Post-test likelihood values were 0.3% to 16% in men and 0.3% to 30.4% in women.CONCLUSIONS: Iron loadingHFEmutations are unlikely to be the most common cause of an elevated serum ferritin level in patients with mild hyperferritinemia. Patients should be advised that there are many causes of an elevated serum ferritin level including iron overload.

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