Flora Women’s Mini Marathon
Dublin, Bank Holiday Monday, June 1st 2009
Last year over e8,000 was raised by the participants
and supporters of the IHA. Sincerest thanks to all
concerned. This year we are urging all members to
persuade friends, family and colleagues to run, walk
or jog the 10k route in support of our Association.
The closing date for entries is the 21st of April 2009
or when the maximum number of entries has been
reached. Entry forms for 2009 will be available on the
web www.florawomensminimarathon.ie
and in the Evening Herald from Thursday 26th
February 2009. Sponsorship cards and T-shirt are
available from Margaret Mullett on 01 4922705 or
email: [email protected]
Help group in Merseyside
North-West UK
A support group has recently been established
for HH patients living in the Merseyside
and North-West area of the UK. If you
have friends or relatives in that
area, who are directly or
indirectly effected by
Haemochromatosis,
perhaps they might be
interested in contacting
the support group at:
www.haemochromatosis-merseyside-nw.org.uk
Telephone: 0151 427 7246
Email: [email protected]
IBTS, Policy for Blood Donation for Patients with Haemochromatosis
Any patient who is picked up on family screening, general
medical screening or mortgage assessment check, as having
HH may go along to become a donor at any IBTS blood donor
clinic. This is possible if they have been diagnosed prior to
the development of iron overload and have normal ferritin
levels (0-300ng/ml for male and 0-200ng for pre menopausal
women). The level for post menopausal women is 0-300ng/ml.
Any regular donor (i.e. anyone who has donated in the last
two years at the IBTS) may continue to donate as long as they
do not need more that four venesections per year and have
no complications of HH other than joint complications. For the
moment all other eligible patients must use the Stillorgan Clinic.
Patients may be referred to the Stillorgan Friday Clinic to have
iron depletion therapy completed to 50ng/ml where they have:
•
•
•
•
•
Started iron-depletion therapy at their hospital
Tolerated same without incident
Been depleted to a ferritin level of 500 ng/ml
Normal L.F.T.s (Liver Function Test)
Received treatment free of charge or are covered by medical card / VHI
Following this, maintenance venesections will take place every
three months (or as required).
After one year it is required that the patient re-attends
the hospital clinic/G.P. surgery for repeat L.F.T.s and a-fetoprotein as per Consultant/G.P. requirements. Thereafter a
new “Hospital Order Form” should be completed where the
patient wishes to continue maintenance venesections at the
Stillorgan Clinic.
You can donate if you are already receiving free-of-charge
treatment at a Hospital or a GP practice (with all venesection
costs covered by a Medical Card or Health Insurance)
You may never donate to the IBTS if you:
• have had a blood transfusion in Republic of Ireland on
or after 01 January 1980 - (other than an autologous
transfusion).
• h
ave had a blood transfusion outside the Republic of
Ireland at any time (other than an autologous transfusion).
• h
ave spent one year or more in the UK* between the
years 1980-1996 including living, working, or on holidays.
*(England, Wales, Scotland, N. Ireland, the Channel Islands
or the Isle of Man).
Bloodmobile Beaumont Hospital
On 19th January 2009 a pilot programme was launched at
Beaumont Hospital to enable the blood of HH patients to
be taken and transfused by the IBTS. The idea was that the
Blood mobile would go every 4th Monday thereafter to
take the blood of HH patients attending Beaumont Hospital
Haemochromatosis Clinic.
www.haemochromatosis-ir.com
Spring 2009
Welcome to the Spring Newsletter...
In this issue:
FEATURES
• Annual General Meeting Saturday 23rd May at IBTS
• Regional Meetings in Tralee, Dublin and Nenagh
• Report on Research at the Centre for Liver Disease,
Mater Hospital, Dublin
• Public awareness of Hereditary Haemochromatosis
in Ireland. A survey
• Help in raising awareness
• Request from National Centre for Medical Genetics
(NCMG)
• Flora Women’s Mini Marathon in Dublin, Bank
Holiday Monday, June 1st 2009
• Help group in Merseyside/North West area of UK
• IBTS, Policy for Blood Donation for Patients with
Haemochromatosis
Annual General Meeting
The meeting will take place at the
Irish Blood Transfusion Service (IBTS)
St James’s Hospital, James’s Street,
Dublin 8 on Saturday 23rd May 2009
at 11am.
The IHA would like to thank the
IBTS and the Medical Director, Dr
Murphy, for once again making
the centre available to us and
for generously sponsoring coffee
and lunch. Family and friends are
welcome. Coffee will be available
from 10.30am. A brief business
meeting beginning at 11.15am will
be followed by guest speakers.
Details are on the enclosed sheet.
The talks will be followed by a
Question and Answer session. The
meeting will conclude with lunch.
For catering purposes, please let us
know as soon as possible if you will
be attending by returning the reply
slip posted out with the official
AGM announcement or by phoning
(01) 873 5911.
Election of Directors
The Directors are responsible for
the day to day running of the
Association on behalf of the
members. Nominations for
appointment to the Board of
Directors should be in writing and
signed by two members of the
Association. Such nominations
should be sent to the Secretary at
least ten days before the AGM.
The address of the Secretary is:
Ann Campbell, 7 Ashleigh Green,
Castleknock, Dublin 15
Regional Meetings:
The problem is that the venesection is free for patients at the
IBTS mobile clinic but the same patients would have to pay
€75 in the hospital. This may mean that patients, because of
this monetary incentive, may not disclose vital information
which would prevent them donating to the IBTS. Until this
charge is removed, the IBTS is not prepared to send the mobile
to Beaumont every month, as had been originally planned.
Additional information:
• The IHA hopes to again take a stand at the 2009 National
Ploughing Championships (NPC), which will take place
from Tuesday 22nd to Thursday 24th September 2009 in
Cardenton, Athy, Co. Kildare. All offers of help to man the
stand will be greatly appreciated. Last year over 200,000
visitors attended the NPC and this proved to be great
opportunity to broaden awareness of Haemochromatosis.
Carmichael Centre, North Brunswick Street, Dublin 7 • T
he IHA would like to thank The National Lottery Fund
and Castle Golf Club who have generously supported
their work.
• W
e would like to thank all members who have already
renewed their membership. Please note that for security
reasons, we advise that membership renewals are best made
by postal order or crossed cheque and not by cash.
Dr Jane English, Bon Secours Hospital
Nurse Ann Marie Flanagan, Mater Hospital
Dr Manus Moloney, Nenagh Hospital
Tralee: November 24th 2008 at
Fels Point Hotel
Dublin: December 4th 2008,
Catherine McAuley Education
Centre in Eccles Street
Nenagh: March 2nd 2009 at 8pm
Abbey Court Hotel
The meeting was attended by
approximately 100 people. The guest
speaker was Dr Jane English, Consultant
Physician/Gastroenterologist at the
Bon Secours Hospital. The excellent
presentation by Dr English was followed
by a very informative and interesting
Question and Answer session.
Speaker: Professor John Crowe and the
Mater Haemochromatosis team.
A special report on the Dublin
meeting and the work of the Mater
Haemochromatosis team is included in
this newsletter.
Speaker: Dr Manus Moloney MD MRCPI
Nenagh General Hospital. The meeting
was attended by a record 125 people,
from Limerick, Clare and Tipperary.
We would like to thank Dr Moloney
for an excellent presentation and for
answering many very relevant questions.
Report on Research at the Centre for Liver Disease
Mater Hospital, Dublin
Photo Gallery
The Centre for Liver Disease (CLD) has been engaged in HH (Hereditary
Haemochromatosis) research for over 20 years. Sixteen papers have been published
and the work of the CLD has been presented internationally on more than thirty
occasions. Sufficient research in the area has been carried out to support the
completion of four MD and two MSc theses, with a further MD in progress.
Susan Murphy attended the Nenagh meeting
Early Endeavours at the CLD
The work of Dr Martin Lombard at the CLD predates the discovery
of the HH gene. Martin examined the hereditary nature of
Haemochromatosis using HLA (Human Lymphocyte Antigen) tissue
typing. Prior to the discovery of the HFE gene, tissue typing was
used to predict siblings who were at risk of developing HH.
Martin examined the expression of proteins that are involved
in iron uptake in the duodenum and livers of patients with HH.
Once a case of HH was diagnosed within a family, HLA typing was
conducted on that person. Following this, family members were
screened to identify those siblings who had the same haplotype.
This was used to predict the likely risk to other family members of
developing iron overload.
HLA tissue typing was by no means an accurate test for HH and
in 1996 the long sought after gene for patients with HH was
identified. Patients who were diagnosed before 1997 may have
been identified using the HLA method.
Since 1997 the genetic test has been available at the CLD. When
the test became available the centre checked out the frequency
of C282Y homozygosity in their patient group and confirmed that
more that 90% were C282Y homozygous.
CLD research into frequency of the C282Y mutation in Ireland
In collaboration with Dr Philip Mayne of Temple Street Children’s
Hospital, where the newborn screening for metabolic disorders
takes place, they examined the frequency of C282Y and H63D in
about 900 new borns. The results of this study showed:
• t hat 1 in 83 are homozygous for C282Y (which means that 1
in every 83 of us is at risk of being homozygous for the C282Y
mutation) and as such is at risk of developing iron overload.
• 1
in 5 of us are carriers (have one copy of the C282Y mutation)
the highest frequency in the world.
The team at the CLD then examined the extent of iron overload in
C282Y homozygous family members that were identified following
diagnosis of the proband (first instance) in that family. It was
found that 43% of men and 23% of women had increased iron
indices indicating that these people were actually loading iron.
The work has led to a remarkably detailed understanding of the
pathophysiology of Haemochromatosis.
The majority of HH patients are homozygous for the C282Y
mutation in the HFE gene. The identification of the HFE gene led
to the discovery of other molecules such as Hepcidin, transferrin
receptor 2 (TfR2) and hemojuvelin (HJV) that are also implicated in
other less common forms of HH. This suggests that they may have
a common mechanistic basis. However, despite the major advances
in the knowledge of iron metabolism, the functions of several of
these molecules remains little understood.
shown that patients with all forms of HH have low or
undetectable levels of this molecule, leading to inappropriately
increased absorption of iron from the diet relative to the level
of iron stores already in the body.
In contrast to this, patients with anaemia of chronic
inflammation (also known as anaemia of chronic disease) have
too much Hepcidin, resulting in not enough iron being released
into the blood stream.
In the future, HH patients may be treated with Hepcidin
injections in order to control the amount of iron taken up
from the diet, similar to the manner in which insulin injections
control the amount of sugar in the body.
For patients with anaemia associated with too much Hepcidin,
the development of drugs to block Hepcidin interacting with
ferroportin may lead to the release of more iron into the blood
stream. The use of novel intervention systems to inhibit or
increase Hepcidin function will require the availability of a reliable,
robust assay system for the measurement of Hepcidin levels.
CLD has looked at expression of Hepcidin in HH livers and
demonstrated that it is indeed lower in HH than in normal
livers. The next step is to measure serum Hepcidin to ascertain
the levels of this protein in those that are not yet loading iron
versus those who are iron-loaded. They will also examine the
effect that phlebotomy has on Hepcidin levels and will correlate
these levels with other biochemical iron indices in both HH and
in those individuals who do not have C282Y or H63D. Hopefully
then it will be possible to work out firstly what exactly signals
the liver to produce Hepcidin and secondly why HH patients do
not produce enough Hepcidin despite being iron loaded.
Future Challenges
Although advances have been made in understanding the iron
metabolism and its regulation, there is much still to be learned.
While Hepcidin has been shown to be the central regulator
of iron metabolism and is deficient in patients with HH, it is
still not known how the liver (where Hepcidin is produced) is
informed about the body’s iron requirements.
Low penetrance of the C282Y genotype (ie not all those who
are homozygous for C282Y go on to develop iron overload)
implies that other factors (e.g. environmental or genetic) that
can modifiy disease expression in terms of iron burden or organ
damage need to be identified. Development of new therapeutic
tools that will address the deficiency in Hepcidin may replace
the need for phlebotomy. The CLD is currently engaged in
addressing these challenges.
Mater Meeting, December 4th
The IHA greatly appreciates the excellent presentation given by Prof. Crowe
and his team, which included Dr. Eleanor Ryan, Nurse Ann Marie Flanagan
The Role of Hepcidin in regulating iron absorption
and Biochemists Yvonne Clune and Jennifer Russell. We would like to thank
Hepcidin has now been shown to play a critical role in the
regulation of iron absorption from the diet. It has also been
them for all the help they have given to the Association and for providing us
with the above information on the work being carried out at the CLD.
Dr Grace Creedon, Regional Hospital, Tralee
Dr David Buckley GP chaired the Tralee meeting
Public awareness of Hereditary Haemochromatosis in Ireland. A Survey.
A cross-sectional geographical survey was carried out by Kate
McElroy, Naomi McElroy and Emma Morrisey. Kate is a medical
student and as part of her medical training she worked with Dr
Suzanne Norris in the Department of Hepatology, St. James’s
Hospital, Dublin 8. Kate was shocked that there seemed to be so
little awareness of HH and decided, with the help of her friends to
carry out a survey.
300 face-to-face interviews were conducted over four consecutive
weekends in September 2008. Participants were recruited from
public places in Dublin City Centre, Letterkenny, Mallow and
Wexford. Exclusion criteria included age (<18 years old) and
ethnicity (non-Irish). Of the 300 participants, 29% were from
Dublin and 71% from outside Dublin.
How many had heard of Haemochromatosis?
It was found that awareness of HH was exceptionally low (at 30%)
especially when compared with awareness of the less prevalent
coeliac disease (75%). Awareness was much higher amongst
women and this reflects the fact that women are more healthconscious than men . Questions surrounding the prevalence,
symptoms, complications and treatment were generally answered
extremely poorly.
One in 100 are liable to have Haemochromatosis whereas the
incidence of coeliac is much lower at 1 in 300. This emphasises
the importance of raising awareness of Haemochromatosis.
30% had heard of Haemochromatosis
75% had heard of Coeliac
70% had not
25% had not
Help in Raising Awareness
We are asking any members who have contacts in Regional or
Local media to help in raising awareness of HH by asking the
media to feature articles/programmes on Haemochromatosis.
We will be happy to supply support information: posters,
brochures, etc. Please let us know by emailing:
[email protected]
or by leaving a message on the voice mail (01) 873 5911.
Conclusion
This study highlights the need for a national awareness campaign.
Early detection allows for early treatment, which has been shown
to aid the reversal of organ damage and resolution of clinical
symptoms. Increased public awareness would promote early
presentation, and thus early treatment, in the silent phase of
the disease, before the development of chronic complications,
decreasing morbidity and mortality in HH sufferers.
You’re in luck! A famous movie star has your disease, so there’s been
a telethon, and drug companies are working on a cure.
Request from National Centre for Medical Genetics (NCMG)
The National Centre for Medical Genetics is involved in projects
aimed at improving testing for genetic disorders, including HH.
The UK centre which produces reference materials for the
World Health Organisation is in the process of producing a
reference panel for HH, and has asked the NCMG to help them
find suitable HH patients to donate samples for this project.
The specific genotypes required to complete the panel are
S65C heterozygous (carrier), H63D homozygous, and S65C/
H63D compound heterozygote (carrier for both mutations).
Reference materials are samples prepared to a very high
standard and proven to contain a particular genotype.
They are used to standardise results between labs, in the
development of new testing kits and in the routine quality
assessment of laboratories to ensure that patients get the
correct results.
Dr David Barton, Chief Scientist at the National Centre for
Medical Genetics , Crumlin has asked the IHA to help identify
suitable members with these genotypes willing to donate a
blood sample.
The process involves a patient giving a small blood sample.
The blood sample is coded to protect the patient’s identity
and sent to the WHO labs in London. Cells from the blood
sample are used to establish a cell line which can be grown
in the laboratory to provide a lasting supply of DNA to make
reference materials in the future.
If you have been identified as having one of the above
genotypes and are interested in finding out more about the
project, contact Dr Barton at Email: [email protected]
or visit www.genetics.ie