Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)

Introduction: HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis. There is currently insufficient evidence to assess whether non-specific symptoms or hepatic injury in homozygotes with moderately elevated iron defined as a serum ferritin (SF) of 300-1000 µg/L are relate...

Full description

Bibliographic Details
Main Authors: Ong, S., Dolling, L., Dixon, J., Nicoll, A., Gurrin, L., Wolthuizen, M., Wood, E., Anderson, G., Ramm, G., Allen, K., Olynyk, John, Crawford, D., Kava, J., Ramm, L., Gow, P., Durrant, S., Powell, L., Delatycki, M.
Format: Journal Article
Published: BMJ Publishing Group 2015
Online Access:http://hdl.handle.net/20.500.11937/28122
_version_ 1848752450729672704
author Ong, S.
Dolling, L.
Dixon, J.
Nicoll, A.
Gurrin, L.
Wolthuizen, M.
Wood, E.
Anderson, G.
Ramm, G.
Allen, K.
Olynyk, John
Crawford, D.
Kava, J.
Ramm, L.
Gow, P.
Durrant, S.
Powell, L.
Delatycki, M.
author_facet Ong, S.
Dolling, L.
Dixon, J.
Nicoll, A.
Gurrin, L.
Wolthuizen, M.
Wood, E.
Anderson, G.
Ramm, G.
Allen, K.
Olynyk, John
Crawford, D.
Kava, J.
Ramm, L.
Gow, P.
Durrant, S.
Powell, L.
Delatycki, M.
author_sort Ong, S.
building Curtin Institutional Repository
collection Online Access
description Introduction: HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis. There is currently insufficient evidence to assess whether non-specific symptoms or hepatic injury in homozygotes with moderately elevated iron defined as a serum ferritin (SF) of 300-1000 µg/L are related to iron overload. As such the evidence for intervention in this group is lacking. We present here methods for a study that aims to evaluate whether non-specific symptoms and hepatic fibrosis markers improve with short-term normalisation of SF in p.C282Y homozygotes with moderate elevation of SF. Methods and analysis: Mi-iron is a prospective, multicentre, randomised patient-blinded trial conducted in three centres in Victoria and Queensland, Australia. Participants who are HFE p.C282Y homozygotes with SF levels between 300 and 1000 µg/L are recruited and randomised to either the treatment group or to the sham treatment group. Those in the treatment group have normalisation of SF by 3-weekly erythrocytapheresis while those in the sham treatment group have 3-weekly plasmapheresis and thus do not have normalisation of SF. Patients are blinded to all procedures. All outcome measures are administered prior to and following the course of treatment/sham treatment. Patient reported outcome measures are the Modified Fatigue Impact Scale (MFIS-primary outcome), Hospital Anxiety and Depression Scale (HADS), Medical Outcomes Study 36-item short form V.2 (SF36v2) and Arthritis Impact Measurement Scale 2 short form (AIMS2-SF). Liver injury and hepatic fibrosis are assessed with transient elastography (TE), Fibrometer and Hepascore, while oxidative stress is assessed by measurement of urine and serum F2-isoprostanes. Ethics and dissemination: This study has been approved by the Human Research Ethics Committees of Austin Health, Royal Melbourne Hospital and Royal Brisbane and Women's Hospital. Study findings will be disseminated through peer-reviewed publications and conference presentations. Trial registration: Trial identifier: NCT01631708; Registry: ClinicalTrials.gov.
first_indexed 2025-11-14T08:08:49Z
format Journal Article
id curtin-20.500.11937-28122
institution Curtin University Malaysia
institution_category Local University
last_indexed 2025-11-14T08:08:49Z
publishDate 2015
publisher BMJ Publishing Group
recordtype eprints
repository_type Digital Repository
spelling curtin-20.500.11937-281222017-09-13T15:14:32Z Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron) Ong, S. Dolling, L. Dixon, J. Nicoll, A. Gurrin, L. Wolthuizen, M. Wood, E. Anderson, G. Ramm, G. Allen, K. Olynyk, John Crawford, D. Kava, J. Ramm, L. Gow, P. Durrant, S. Powell, L. Delatycki, M. Introduction: HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis. There is currently insufficient evidence to assess whether non-specific symptoms or hepatic injury in homozygotes with moderately elevated iron defined as a serum ferritin (SF) of 300-1000 µg/L are related to iron overload. As such the evidence for intervention in this group is lacking. We present here methods for a study that aims to evaluate whether non-specific symptoms and hepatic fibrosis markers improve with short-term normalisation of SF in p.C282Y homozygotes with moderate elevation of SF. Methods and analysis: Mi-iron is a prospective, multicentre, randomised patient-blinded trial conducted in three centres in Victoria and Queensland, Australia. Participants who are HFE p.C282Y homozygotes with SF levels between 300 and 1000 µg/L are recruited and randomised to either the treatment group or to the sham treatment group. Those in the treatment group have normalisation of SF by 3-weekly erythrocytapheresis while those in the sham treatment group have 3-weekly plasmapheresis and thus do not have normalisation of SF. Patients are blinded to all procedures. All outcome measures are administered prior to and following the course of treatment/sham treatment. Patient reported outcome measures are the Modified Fatigue Impact Scale (MFIS-primary outcome), Hospital Anxiety and Depression Scale (HADS), Medical Outcomes Study 36-item short form V.2 (SF36v2) and Arthritis Impact Measurement Scale 2 short form (AIMS2-SF). Liver injury and hepatic fibrosis are assessed with transient elastography (TE), Fibrometer and Hepascore, while oxidative stress is assessed by measurement of urine and serum F2-isoprostanes. Ethics and dissemination: This study has been approved by the Human Research Ethics Committees of Austin Health, Royal Melbourne Hospital and Royal Brisbane and Women's Hospital. Study findings will be disseminated through peer-reviewed publications and conference presentations. Trial registration: Trial identifier: NCT01631708; Registry: ClinicalTrials.gov. 2015 Journal Article http://hdl.handle.net/20.500.11937/28122 10.1136/bmjopen-2015-008938 BMJ Publishing Group fulltext
spellingShingle Ong, S.
Dolling, L.
Dixon, J.
Nicoll, A.
Gurrin, L.
Wolthuizen, M.
Wood, E.
Anderson, G.
Ramm, G.
Allen, K.
Olynyk, John
Crawford, D.
Kava, J.
Ramm, L.
Gow, P.
Durrant, S.
Powell, L.
Delatycki, M.
Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title_full Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title_fullStr Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title_full_unstemmed Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title_short Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)
title_sort should hfe p.c282y homozygotes with moderately elevated serum ferritin be treated? a randomised controlled trial comparing iron reduction with sham treatment (mi-iron)
url http://hdl.handle.net/20.500.11937/28122