Please
note: This
information has
been compiled with
the advice of leading
doctors/researchers
as well as HH patients
themselves. This
information is
based on the following
premise that this
is the information
we would give to
a family member,
where "money
was no object",
and the latest
information on
health options
was wished. Through
this premise, the
most thorough and
aggressive health
care can be suggested.
Each patient should
confer with his/her
physician about
their own health
care. If a physician
does not regularly
treat HH patients,
he/she should consult
with a medical
expert. AHS can
provide such experts.
Q:
What is iron overload,
hemochromatosis?
A:
Hemochromatosis (pronounced:
He-mo-chro-ma-toe-sis)
is a genetic condition
of abnormal iron
metabolism that permits
absorption of too
much iron from an
ordinary diet. Hereditary
hemochromatosis is
an autosomal recessive
disorder. It is NOT
a blood disease.
It is also known
as iron overload
or iron storage disease.
It is possible for
someone who has never
had an iron pill
in his/her life to
have iron overload.
Q:
Can iron overload
be acquired?
A:
Yes, iron overload
can be acquired.
The genetic form
is known as primary
hemochromatosis,
hereditary hemochromatosis
(HH) or (HHC), or
genetic hemochromatosis
(GH) and idiopathic
hemochromatosis (from
an unknown origin),
term which is rarely
used anymore. The
acquired form (through
massive doses of
iron pills or blood
transfusions) is
known as secondary
hemochromatosis,
acquired hemochromatosis,
or transfusional
iron overload.
Q:
How common is iron
overload/hemochromatosis?
A:
Frequency (incidence
in the general population)
of the abnormal gene
is: 1 in 100-200
people has hemochromatosis
(double gene mutation
known as a homozygote)
and 1 in 8-10 people
is a carrier of hemochromatosis
(single gene mutation
known as a heterozygote
or "het" for
short). That's approximately
32 million Americans
who are carriers
and 1.5 million Americans
have the double gene
which can lead to
full blown hemochromatosis.
Recent studies in
Ireland, show a frequency
of 1 in 4 as carriers
of the single mutation
and 1 in 64 as double
gene mutation. Because
of this high frequency,
routine screening
for hereditary hemochromatosis
is medically indicated.
Q:
Who is affected
by iron overload/hemochromatosis?
A:
Most affected people
DO NOT KNOW they
are accumulating
dangerous stores
of iron. Tragically
underdiagnosed, no
race, age, or gender
is immune. (Premenopausal
women do have iron
overload as well
as young children)
The American Hemochromatosis
Society (AHS) has
made an official
position statement
and issued guidelines
for diagnosis, treatment,
and management of
iron overload/hereditary
hemochromatosis,
including recommendations
that all Americans
age 2 years and older
be routinely and
universally screened
for iron overload
as well as genetic
screening. All ethnic
groups can be affected,
but those with an
Irish/Scottish/Celtic/British
heritage have an
even higher prevalence
of the HH mutation.
Hispanics and Afro
Americans also have
iron overload.
Q:
How serious is
iron overload,
hemochromatosis?
A:
The excess iron injures
body organs and KILLS
unless detected in
time for adequate
iron storage removal.
It is a very serious
disease, but quite
benign if detected
early before organ
damage has occurred.
That is why routine
screening is so important.
HH is a lethal but
treatable disease.
Don't let anyone
tell you that iron
overload/HH is "nothing
to worry about".
Q:
Is there anything
that can be done
to treat or prevent
iron overload?
A:
Yes. Hereditary hemochromatosis
is one of the few
genetic diseases
which has a prevention
plan so that all
organ damage and
premature death can
be completely prevented.
When the excess iron
IS detected EARLY
and is ADEQUATELY
removed, the individual
can enjoy a normal
life span in normal
health. The motto of the American Hemochromatosis Society is: "Prevention through Genetic Testing".
Q:
What are the symptoms
of iron overload,
hemochromatosis?
A:
Patients can have
iron overload and
NOT have symptoms
(asymptomatic) and
that is the best
time to diagnose
the patient. Many
doctors have been
taught to look for "signs
and symptoms" of
HH but by the time
symptoms appear,
it is often too late
to save the patient's
life. Iron overload
and storage in vital
body organs can damage
and may cause:
-
chronic
fatigue (the
most common complaint
by patients);
-
cirrhosis/cancer
of the liver
(with or without
a history of
alcohol use);
-
arthritis/joint
pain;
-
impotence/sterility/infertility;
early menopause/irregular
menses;
-
hair
loss; hair thinning
-
diabetes
(bronze diabetes,
a darkening,
graying of the
skin not caused
by sun exposure);
-
cancer
(cancer thrives
on iron); (especially primary liver cancer)
-
abdominal
pain/swelling;
-
weight
loss;
-
frequent
colds/flu/infections,
compromised immune
system;
-
headaches;
-
hypothyroidism; (low thyroid)
-
heart
irregularities/heart
failure/heart
attack (especially
in younger men);
-
cirrhosis
of the liver
(with or without
a history of
alcohol use);
-
hepatoma/liver
cancer (the leading
cause of death
in HH);
-
premature
death.
Anyone
with any combination
of these symptoms,
or a family history
of these symptoms,
should be tested
for HH immediately.
But remember, two
important facts:
1.) There can be
numerous generations
of "silent
carriers" of
the mutation who
never become ill
and live to old age
thereby giving a "false
security" that
HH doesn't "run
in the family" 2.)
Some patients do
not have symptoms
until they are end
stage and their lives
cannot be saved.
Early detection should
be achieved through:
1.) Knowledge of
genetic risk through
DNA Testing 2.) Annual
screening with serum
iron, TIBC, and serum
ferritin to assure
that iron storage
is not taking place.
Q:
I went to the blood
bank and they told
me I was anemic;
how could I have
iron overload at the same time?
A:
Blood banks do NOT
screen for iron overload/hemochromatosis.
They are basing their
comments on the hematocrit
or hemoglobin readings
that they take prior
to a blood donation
(the finger prick
test) and these are
not the correct tests
for iron overload
storage! Yet blood
banks continue to
give out false information
to their clients,
telling them that
they have low "iron" or
even in some cases
that their iron is
high! The iron-overloaded
person may be anemic
at the same time.
There are several
types of anemia that
are iron-loading!
Hematocrit and hemoglobin
are NOT tests for
iron overload/hemochromatosis;
ask your physician
to test you with
transferrin saturation
(TS) which is calculated
by dividing the serum
iron by the TIBC
(total iron binding
capacity) and serum
ferritin to confirm
or rule out iron
overload.
Q:
How can I know
if I have iron
overload/hemochromatosis?
What tests should
be performed? I
hear that there
is a DNA genetic
test kit for hemochromatosis,
is that true?
A:
A simple series of
blood tests which
can be performed
by any doctor or
lab can indicate
iron levels. They
must be proper iron
measures: Total Iron
Binding Capacity
(TIBC) together with
Serum Iron. Divide
TIBC into Serum Iron
to get the percentage
of transferrin saturation.
It is important that
the serum ferritin
is also performed
at the same time
and it should be
done, if possible,
while fasting. Refrain
from iron pills for
a week prior to the
tests. A new test,
serum ferritin-iron
assay will also be
available in the
near future. The
discovery of the
hemochromatosis gene
was announced in
August 1996 by Mercator
Genetics Inc. of
Menlo Park, California
(which was purchased
by Progenitor in
1997. Bio-Rad
Laboratories of Hercules,
CA bought the patent
from Progenitor.
Bio-Rad currently
holds the patent
to the HFE mutation).
The new genetic DNA
test (HLA-H now known
as HFE or HFe) has
been commercially
commercially available
from many labs around
the nation since
2/1997, including
SmithKline Beecham
Clinical Laboratories
currently known as
Quest Diagnostics
on a nationwide basis.
Many university labs
and other smaller
independent genetics
labs across the nation
now offer the DNA
testing for HH. In the early years,
many of them only
tested for the one
mutation (845A also
known as Cys282tyr), but today most labs test for BOTH
HH mutations (845A
and 187G also known as cys282 and his63). There is a 3rd gene mutation, 65S, but it is not included in most labs' testing protocols. Several labs also test for both gene
mutations and offer a handy "cheek
brush" tissue
collection kit which
you can get through
the mail and perform
in the privacy of
your own home: Kimball
Genetics in Denver,
Colorado (1-800-320-1807
or 303-320-1807 in
Denver or outside
of the U.S.A.)
The "cheek
brush" method
(no needles/blood/pain)
is great for kids
and adults. More
info on how to order
these tests is available
from the AHS office
at 407-829-4488. If you wish to get genetic DNA testing without using a doctor or having the results on your medical records, you may contact HealthCheckUSA (www.healthcheckusa.com) or call on their toll free number: 1-800-929-2044, to order the Kimball Genetics Lab DNA test kit. The results are private and confidential and are mailed directly to the patient, thusly protecting the patient's medical information. You may contact the lab directly for current prices. Genetic counselors are available to patients as part of the cost of the testing. The American Hemochromatosis Society strongly urges patients and their family members (male and female) to be genetically tested, including children, teens, young adults and seniors. If you have a question about your genetic testing, feel free to contact the AHS office directly for more information.
Q:
I had the blood
tests for iron
overload and my
doctor says I am "fine";
do I need to worry
about it now?
A:
First of all, always
get copies of your
medical lab reports
for your home medical
file and review them
yourself. Make sure
that the serum iron,
TIBC, and serum ferritin
tests are on the
report and double
check to make sure
that you fall into
the "safe
zone" set
by AHS--a ferritin
under 150 and a saturation
percentage of under
40%. Some labs have
very "high" normal
levels and you might
not really be in
a safe zone. Many
patients have contacted
us who have iron
studies in the "danger
zone" but
their doctors have
told them that they
are fine. It is prudent
to find out for yourself.
The same philosophy
applies to the DNA
test--make sure you
get copies of the
report for your own
files and know if
you have the single
or double mutation
and which of the
two mutations you
carry (you can even
carry one of each mutation which would make you
known as a compound
heterozygote).
David Snyder, vice president of the American Hemochromatosis Society, greets Victor Herbert, MD at the AHS exhibit booth at the ASH (American Society of Hematology) convention.
Q:
I have had the
correct tests for
iron overload and
I have low iron;
should I worry
and should I take
iron pills?
A:
LOW iron means investigate
the cause: cancer?
internal bleeding?
chronic infection?
It is dangerous to
take iron without
knowing the reason
for the iron deficiency.
Your doctor should
thoroughly investigate
the cause of your
low iron before prescribing
iron pills. The late Victor
Herbert, MD JD, (see photo below) Professor
of Medicine at Mt.
Sinai School of Medicine
in New York City stated that no one
should take iron
supplements without
first assessing their
iron storage status. Try to find out why you have the iron deficiency in the first place.
Sandra Thomas, President/Founder of the American Hemochromatosis Society, joins Dr. Victor Herbert at the AHS exhibit booth at the American Society of Hematology (ASH) convention.
Q:
I've had the iron
profile tests,
read them myself
and they were within
the normal range;
do I need to be
retested ever again
and/or have the
DNA genetic test,
especially since
I feel fine?
A:
Yes. Even if your
first test was negative,
ideally, you should
be monitored annually
by your physician.
Also, by having the
DNA test, you can
discover if you have
the single or double
gene for hemochromatosis
and determine your
risk factor of developing
full blown hemochromatosis
or passing a mutation
to offspring. A very
small percentage
(about 12% to 15%)
of patients who are
clinically iron overloaded
(have high TS and
serum ferritin levels)
may have a negative
result on the genetic
test. Scientists
believe that these
persons have still
another HH mutation
(which has yet to
be discovered and
a test for it developed)
which is causing
this iron storage.
For this reason,
it is always wise
to test using the
transferrin saturation
and serum ferritin
annually to be on
the safe side.
Q:
What iron levels
are considered "suspicious" for
iron overload/hemochromatosis?
A:
A percent of saturation
of more than 40%
and/or a serum ferritin
of more than 150
are considered suspicious
for iron overload/hemochromatosis.
It is important to
note that in some
patients, the percent
of saturation can
be quite high while
the ferritin rather
low (this is often
the case in children
or young adults in
their 20's) or conversely,
with normal percent
of saturation and
a high serum ferritin.
Genetic testing can,
in most cases, confirm
the diagnosis so
that treatment can
begin. Ask your doctor
about liver function
tests, if these are
also elevated, that
is another possible
sign of HH.
Q:
How is a diagnosis
for iron overload/hemochromatosis
confirmed?
A:
Confirmation of a
diagnosis is based
on a combination
of several factors;
these will vary from
doctor to doctor
on which ones are
used: a.) Elevation
of iron tests such
as transferrin saturation
and serum ferritin
b.) Elevation of
liver enzymes (abnormal
liver function tests)
c.) Symptoms (diabetes/heart
disease/arthritis/impotence/infertility/bronzed
skin, liver disease)
d.) Liver biopsy
showing hepatic iron
index (HII) and such
liver diseases as
cirrhosis/cancer
e.) DNA genetic test
(results are available
between 1 to 14 days
depending on the
lab used) f.) CT/MRI/Ultrasound
of the liver showing
deposition of iron
in the liver or hepatoma(s)
(liver tumors). g.)
Quantitative phlebotomy
(a trial series of
six weekly phelobotomies
to confirm diagnosis;
if the hematocrit
remains 35% or greater
immediately prior
to each phlebotomy.
Six weeks of weekly
bloodletting is another
way to confirm iron
overload, hemochromatosis)
h.) Alpha Fetoprotein
bloodwork ruling
out liver cancer
due to HH. i.) EKG
to rule out heart
damage from HH. j.)
Family history of
iron overload, especially
parents/siblings,
who should also be
screened with transferrin
saturation and serum
iron and genetic
tests for comparison.
If no family history
of diagnosed hemochromatosis,
check family medical
history for symptoms
of undiagnosed HH,
such as heart disease,
early heart attacks
especially in men
(in their 30's),
liver cirrhosis/cancer,
diabetes, arthritis,
impotence, infertility,
chronic fatigue syndrome,
etc.
Q:
What will a CT/MRI
or Ultrasound (US)
show?
A:
A CT or MRI of the
abdomen will only
tell you that the
liver is very "dense" due
to iron content.
They do not give
you any details such
as if there is cirrhosis
or not or if there
is scar tissue, etc.
The density can be
measured and it has
a very good correlation
with the amount of
iron in the liver.
Both CT and MRI are
very good to detect
hepatomas (cancerous
tumors of the liver)
very early and very
well. They also help
to tell us if they
can be surgically
removed or not. Ultrasound
is another technique
that can be used
as well and is less
expensive than the
CT or MRI and uses
no radiation like
the CT. In fact,
an ultrasound with
an ACUSON would be
advisable in order
to maximize any chances
of finding an early
lesion that might
be confined to one
lobe and therefore
potentially resectable
(operable). If you have an "early" stage diagnosis (ferritin less than 500), you probably would not need to have a CT or MRI of the liver, unless liver disease is indicated in some other way.
Q:
My doctor says
I must have a liver
biopsy to confirm
a diagnosis of
hemochromatosis
and won't treat
me until I have
it. My brother
has HH and he didn't
have a liver biopsy
and began treatment
immediately after diagnosis which was successful. What
does this mean?
A:
A liver biopsy has
been used as the "gold
standard" by
many physicians for
decades to confirm
a diagnosis of hemochromatosis.
It will show your "hepatic
iron index" (HII)
or how much actual
iron is in your liver
tissue, a popular
storage site for
iron in the hemochromatosis
patient. In the past,
a patient was determined
to be a "carrier" or
a double gene mutation
patient based on
how much iron was
in their liver. This
was, of course, "educated
guessing" because
a liver biopsy is
NOT a genetic DNA
test and cannot in
any way tell you
if you have either
of the mutations
now known to affect
iron metabolism in
HH patients. With
the advent of the
DNA genetic test,
doctors are now able
to definitively determine
a patient's genetic
status with or without
the liver biopsy,
making using the
liver biopsy as a
means of diagnosis
rather obsolete in
most cases. The liver
biopsy is an invasive
procedure and does
have morbidity and
mortality (injury
and death) in a small
percentage of procedures.
The chance of internal
bleeding during or
after this procedure
has, in some cases,
resulted in death
of the patient. The
advantage of the
liver biopsy is that
it alone can determine
if a patient has
cirrhosis of the
liver and/or other
liver diseases and
to what extent. The
determination of
liver cirrhosis helps
the doctor to make
a more accurate prognosis
for the patient since
liver cirrhosis may
(not always, but
may) lead to liver
cancer (hepatoma)
at a later date.
This prognosis, however,
does not alter the
treatment plan for
HH. Patients with
liver cirrhosis can
be followed carefully
to watch for any
medical problems
and annually tested
with the alpha fetoprotein
blood testing to
detect early cancer
of the liver when
it might be surgically
removed. The liver
biopsy alone is not
a good test to detect
liver cancer as the
sample may be benign
but another section
of the liver may
have a tumor, hence
the importance of
having an ultrasound,
CT, or MRI of the
liver to rule out
hepatoma in all HH
patients. The liver
biopsy should be
discussed in detail
with the physician
before deciding to
have this procedure
done. Also, in the
cases of early diagnosis
(lower iron levels,
no elevated liver
enzymes, patient
is asymptomatic (no
symptoms), young
or a child, many
physicians now feel
that the liver biopsy
is not necessary
as the liver is probably
not damaged and the
confirmation of hemochromatosis
can be made through
the new DNA genetic
test. The treatment
is the same for the
patient whether or
not liver cirrhosis
is present. The liver
biopsy is also an
expensive procedure,
making it a problem
for patients without
health insurance.
Q:
What are my chances
of having liver
cancer as a result
of having hemochromatosis?
A:
If you start phlebotomies
before cirrhosis
of the liver starts,
then the chances
of a liver cancer
(hepatoma) are not any
higher than in the
rest of the population.
You can detect the
beginning of liver
cancer by checking
the blood periodically
with a test called
alpha-fetoprotein.
Annual or bi-annual
ultrasounds of the
liver are also advisable
in patients with
cirrhosis or suspected
cirrhosis of the
liver. Persons with
HH should have the
alpha fetoprotein
test done two or
three times a year.
Even in persons without
confirmed cirrhosis,
the alpha fetoprotein
test should be performed
just in case. It
is an extra security
measure. If a hepatoma
is found early, it
can be removed with
a partial liver resection. In some cases, there can be a cure.
Q:
Is there a treatment
for iron overload?
A:
Yes. Hemochromatosis
is considered the "Good
News Disease" because
you can do something
about it! There is
a treatment--a very
easy, simple and
effective one! The
treatment of choice
is bloodletting,
medically known as "phlebotomy" (fla-bot-o-me).
It is identical to
a blood donation
at a blood bank.
When iron overload
is discovered, it
is imperative to
unload the excess
iron as FAST AS SAFELY POSSIBLE
by being bled weekly
or twice weekly.
The patient should
try to reduce the
serum ferritin to
less than 20 within
18 months of diagnosis.
The duration of weekly
treatments (known
as the aggressive treatment phase)
will be determined
by the amount of
iron stored in the
body based on blood
test results and/or
liver biopsy. If
the iron overloaded
patient is also severely
anemic, an iron chelator,
Desferal, must be
used instead of bleeding.
A new oral chelator has been developed called,
ExJade, made by Novartis. You can learn more about it at:
http://www.exjade.com/index.jsp
Q:
If there is a drug
I can take for
iron overload,
wouldn't it be
better to use that,
instead of giving
blood all of the time?
A:
Drug chelation (Desferal)
for iron overload
is not a simple pill
or shot that will
remove iron from
the body. Desferal
must be administered
through injection
or a "pump" over
many hours each day
and the drug also
has side effects.
It is also not as
effective or as fast
as bloodletting/phlebotomy,
so those iron overloaded
patients who are
able to be bled are
considered to have
a great medical advantage
over those who must
be treated with the
drug. There is a new drug called, ExJade, which is a pill. These methods do have side effects, yet, there is a lot of hope that ExJade, an oral chelator, will gain popularity, especially among those patients with transfusional iron overload and iron loading anemias, who cannot be bled or have therapeutic phlebotomy (bleedletting).
Q:
What is the cost
of treatment? Will
my insurance pay
for this?
A:
Treatment, known
as phlebotomy or
bloodletting, which
is identical to a
blood donation at
a blood bank, ranges
in cost (in U.S.
dollars) per treatment
as follows: a.) Blood
bank (community blood
bank)=$30.00 to $200.00
per treatment b.)
Doctor's office=$200.00
to $400.00 per treatment
c.) Hospital/outpatient=$400.00
to $1400.00 per treatment
You will have to
check with your individual
insurance company
to determine coverage.
Although the blood
banks are the least
expensive, insurance
usually does not
cover phlebotomy
cost at a blood bank
(Medicare does not
cover blood bank
treatments, yet will
cover treatment by
a doctor), however,
it will cover phlebotomy
treatment at the
much high rates in
the doctor's office
or hospital. It is
odd that insurance
would not cover the
least expensive procedure
and hopefully this
will change in the
future. The new oral chelator, ExJade, is made by Novartis. Patients interested in more information about ExJade should contact the company and ask about pricing and possible assistance with the cost of the medication.
Q:
How often should
I be treated?
A:
You should have a
phlebotomy/bloodletting,
at least once a week,
as long as your hematocrit
remains at 35% or
greater before each
treatment. Some patients
are treated twice
a week or even three
times a week when
severely iron overloaded.
Some patients who have other medical problems, or are elderly, may have their
treatment schedules adjusted to every ten to 14 days initially during the "aggressive"
phase of treatment. When the iron stores are depleted, and the ferritin has reached 20,
then the treatments can be done much less often, 1 to 4 times a year.
Q:
How long do I have
to have the treatments
done?
A:
Weekly treatments
(the "aggressive
treatment phase")
should continue as
long as your hematocrit
remains 35% or greater
before each treatment
and until your serum
ferritin is below
20. At that point,
you begin maintenance
treatments, about
three or four times
a year, which should
be performed for
the rest of your
life. The serum ferritin
level should be maintained
below 20 for the
rest of your life.
Some patients have
reported that when
they completed their
aggressive phase
and were iron depleted
that they then stopped
and weren't bled
again for many years.
This is incorrect.
You must continue
to be bled three
or four times a year
(the number of times may vary from
patient to patient)
or the iron stores
will build up again
placing your health
in danger.
Q:
How many phlebotomies
will I need to have
a normal iron level
again?
A:
The number of phlebotomies
varies from patient
to patient depending
on how high the
initial iron overload
is. A patient with
early diagnosis
may only have to
give a dozen phlebotomies
before going on
a maintenance program
for life; other
patients, in advanced
stages of hemochromatosis,
may require 80
to 100 phlebotomies
or more to "de-iron" themselves
("de-iron" is
a term used to
denote a patient
who has reached
a serum ferritin
of 20 or a target
goal set by his/her
physician which
is usually a serum
ferritin below
150). You can expect
each phlebotomy
to reduce the ferritin
approximately 30
points each time.
So, a ferritin
of 3000 might require
100 phlebotomies
to reach the target
goal. A ferritin
of 300 might only
require 10 phlebotomies
to reach the target
goal.
Q:
My ferritin was
3,000 at diagnosis
and was dropping
steadily approximately
30 points per treatment, phlebotomy,
but suddenly dropped
500 points. My
doctor and I don't
understand how
this could have
happened?
A:
Serum ferritin is
a test which not
only determines iron
in the body but also
inflammation. A body
with excess iron
is usually inflamed,
to varying degrees
from patient to patient.
As the toxic levels
of iron are removed
from the body, the
inflammation is also
reduced, and in some
cases, much of the
high number in the
serum ferritin test
reflects inflammation
and when the iron
is removed, it "relieves" the
body of this "irritant" which
is reflected in a
sudden drop in the
ferritin level. It
may later even out
and drop more steadily,
or drop suddenly
again on several
different occasions.
Sudden drops in ferritin
do not always happen,
however, if they
do, it can be considered
normal during the
treatment of the
HH patient.
Q:
How will I feel
after so many phlebotomies?
Are their side
effects?
A:
The reactions or
side effects of phlebotomies
differ from patient
to patient. For patients
who have a history
of blood donation
in their community,
treatment is no different,
since it is identical
to a blood donation
at your local blood
bank. The only difference
is that it is done
more often (weekly)
than voluntary blood
donation (usually
every 56 days) and
therefore patients
often report being
fatigued and weak
after numerous treatments,
however, they are
necessary to prevent
damage to the patient
or prevent additional
damage to the patient,
and to prevent death.
If you are in "aggressive
treatment" (at
least weekly) you "may" experience
varying degrees of
tiredness and fatigue.
For advanced patients
undergoing vigorous
weekly treatments
for extended periods
of time, some have
reported that they
have had to stop
working or get assistance
from family or friends
with household chores
and child care. Family
members and friends
should be informed
that treatment is
necessary to save
the patient's life
and understand that
physical and emotional
support are essential
for the patient's
successful completion
of initial treatment.
Other patients actually
report feeling "invigorated" after
each treatment with
a few days of tiredness
after each treatment
and then back to
normal. Be sure to
discuss any side
effects that you
experience with your
physician.
Q:
Is hemochromatosis
reversible through
phlebotomy or must
a patient undergo
phlebotomy on a
regular basis for
the rest of his
life? Does phlebotomy
eventually ease
the symptom so
that this treatment
may stop?
A:
The symptoms of iron
overload/hemochromatosis
sometimes can be
improved or even
reversed (i.e., a
woman infertile from
hemochromatosis and
told to adopt a child
was diagnosed, treated
and now has a biological
child). Treatment,
however, should continue,
for the rest of the
patient's life, usually
at a rate of three
or four phlebotomies
per year, although
this rate can differ
slightly from patient
to patient. Aggressive,
weekly phlebotomy
will eventually remove
the stored iron in
the body, however,
the iron will once
again accumulate
if regular phlebotomy
is not maintained
for the rest of the
patient's life. Remove
that stored iron
as safely and quickly
as possible and keep
it out with regular
phlebotomy for the
rest of your life!
Remember, once you
are "de-ironed",
don't stop! Bloodletting
is for life and if
you don't regularly
have blood removed,
the iron will simply
build up again and
store in vital organs.
Note: if iron overload
is due to "acquired
hemochromatosis" through
iron pill ingestion
for instance, then
once deironed, the
treatments can stop
permanently.
Q:
I have a fear of
needles; isn't
there any other
way to be treated?
A: First of all, if you have a fear of needles, you are not alone.
Phlebotomy (bloodletting)
is the safest and
most effective way
to treat iron overload
and prevent the damage
and premature death
of the patient. Phlebotomy
is much more effective
than drug treatment
which is cumbersome
and has side effects.
Yes, there are needles,
but there are some "tricks" that
you can use. Some
nurses use lidocaine
on the arm (EMLA creme) before
the procedure to
make needle insertion
more comfortable;
some patients put
hot compresses on
the arm to help make
it more "ready" for
the treatment followed
by a cold pack afterwards;
others put vitamin
E on the arm where
the needle will go
several hours before
the procedure (do
this to both arms
since you don't know
each time which arm
will be used). Getting
a phlebotomist (nurse
or person who does
the bloodletting
procedure) with whom
you can work well
and feel comfortable
is very important,
too. If you find
such a person, request
him/her each time, learn
their schedule, and
you will probably
have a better experience
with your treatment. If a nurse or technician makes you feel uncomfortable, physically or mentally, then get someone else if at all possible. You want to be relaxed for the procedure.
There is also a "butterfly" needle
which some patients
have reported as
much more comfortable
than the regular
needles used for
blood donation. Ask
questions and use
these suggestions,
it will make it much
easier in the long
run. All in all,
you will get "used" to
the weekly bloodletting
and find that usually
it is just as simple
as donating a unit
of blood. And, remember,
phlebotomies certainly
are preferable to
the alternative--organ
damage and serious
health conditions
(which involve many
needles), not to
mention premature
death, that would
result from no treatment
at all. Discuss your
fears with your physician
and the phlebotomist
so that they can
work with you to
make this experience
as comfortable and pleasant as
possible. If your
fear of needles and/or
blood is extreme,
some patients have
been able to comply
using sedatives and
tranquilizers prior to
the procedure. Remember,
this procedure is
identical to a blood
donation, a common,
everyday medical procedure performed
by many community
minded citizens around
the country on their "lunch
break".
Most patients do
not have any problems
or unusual fears
concerning this procedure,
but if you do have
a great fear, it
is imperative that
the medical team
know about it so
that you can work
out a plan that will
allow you to be treated. And, remember, you are not alone in your fear of needles, which is very common.
Compliance with the
treatment plan is
essential for a good
outcome. Many patients
who have had a fear
of needles, have
overcome this fear
and completed their
treatments successfully
and gone on to counsel
other patients who
feel as they used
to about the treatment!
Remember, if you
DON'T get treated,
you will have far
more needles than
you could imagine
from the resulting
illnesses such as
diabetes, liver transplant,
etc. The sooner you
start treatment,
the fewer phlebotomies
you will need overall.
The prescription
should read: "Dx:
Hemochromatosis--Phlebotomize
patient as long as
hct. is greater than
35%" This
prescription should
be good for one year
and renewed annually.
Q:
Is the blood I
give during my
treatment used
as donor blood?
The blood bank
said they were
going to discard
it? Is there something
wrong with my blood?
I thought HH wasn't
a "blood
disease" or infectious?
A:
Some blood banks
do use the hemochromatosis
blood as donor blood,
but most blood banks
in the U.S. do not.
There is nothing
wrong with hemochromatosis
blood; HH is not
a blood disease,
nor is it infectious. HH blood can
be used as donor
blood as long as
it meets the standards
and tests of the
blood bank (i.e. free from
HIV, hepatitis, etc.).
HH blood is not contagious
or infectious in
any way. The FDA
was petitioned
by the late Victor Herbert,
MD JD, of Mt. Sinai School of Medicine in New York City, NY, to use hemochromatosis
blood as donor blood.
Although the FDA
did not immediately change their
policy, more petitions
followed. In the past, the
blood bank was using
what many consider
to be an "outdated" policy
which says that any
patient who gives
blood for a "medical
reason" is
a "motivated
donor" and
they feel that motivated
donors' blood is
not as "safe" as
other blood donations
because donors might
donate (in order
to save their own
lives due to the
medical condition)
when they personally
know that they shouldn't
(i.e. they have HIV,
hepatitis, etc.).
The blood bank feels
that people who are "motivated
donors" will
not tell them about
HH so that they can
donate blood for
free to avoid the
cost of phlebotomies.
Leading doctors around
the country have urged
the AABB and the
Red Cross to change
their policies concerning
HH patients, who
are shown to be just
as safe as the general
public when donating
blood. In 1999, the FDA approved the use of hemochromatosis blood as donor blood. Any blood bank can apply for a "variance" to use HH blood as donor blood. The FDA did not issue a mandate that all blood banks had to use HH blood as donor blood, but did give them the option to do so if they decided to do so. More than fifty blood banks around the USA accept and use HH blood as donor blood. If you want your local blood bank to use HH blood as donor blood, you can contact the blood bank director and discuss how their policy might be changed in the future. You can find a list of these blood banks on the AHS web site or the FDA web site. The American Hemochromatosis Society feels that
HH patients are very "special" since
they are "super
donors".
Q:
Is there a special
diet I should eat
or foods I should
avoid?
A:
Basically, iron in
the diet is not going
to make much difference
in relation to your
treatment, however,
it is wise to check
the labels of processed
foods for their iron
content. For instance,
certain breakfast
cereals contain 100%
RDA of iron as do
other products. Avoid
alcohol and vitamin
C which enhance iron
absorption, cooking
in cast iron cookware,
and never take iron
pills or supplements
containing iron.
Hemochromatosis patients
should not eat raw
seafood or shellfish
(cooked is fine)
due to a bacteria
(vibrio vulnificus)
which can kill the
patient within hours
of ingestion (due
to a compromised
liver which many
HH patients have)
unless emergency
treatment of antibiotics
(tetracycline) is
administered. (Note:
this can also happen
to fishmen who handle
and clean fish).
Drink tea and coffee
with your meals which
will help block the
iron in the foods
you do eat. For more details on diet, you can purchase "The Hemochromatosis Cookbook" by Cheryl Garrison available through any major book store, amazon.com, or the Iron Disorders Institute (IDI).
Q:
Is iron overload/hereditary
hemochromatosis "curable"?
A:
Iron Overload is
not curable if it
is genetic hemochromatosis, hereditary hemochromatosis (HH). The patient will
need to be monitored
and treated for the
rest of his/her life.
However, iron overload
is curable in the
case of acquired
hemochromatosis such
as massive doses
of iron pills, etc.
Once the patient
is "de-ironed",
he/she will not need
to be treated anymore. For HH, we hope that research in the future will find a cure for this condition, until then, treatment and early diagnosis, offer the next best thing to a cure. In fact, HH can be prevented with early genetic screening and detection of the high risk gene mutations. In such cases, patients can be genetically screened, identified, and monitored, so that they will never have high iron at any time in their lives, thusly preventing organ damage and premature death.
Q:
If hemochromatosis
is a genetic disease,
should other family
members be tested?
Which ones and
when?
A:
ALL blood relatives
(not just the immediate
family) of the iron-overloaded
individual should
be strongly warned
to be screened immediately
with the iron profile
of serum iron, TIBC,
and serum ferritin)
and the new DNA genetic
test. All should
be monitored annually
for the rest of their
lives. This includes
men, women (pre and
post menopausal)
and minor children.
If the HH patient
has children, the
spouse should also
be tested. Actually,
everyone in our society
should be tested,
but especially family
members. Due to the
lack of public awareness
and physician education
about hemochromatosis,
most family members
are not screened
and many diagnoses
are missed as a result.
Q:
I told my family
members that I
had hereditary
hemochromatosis
and what tests
to have done, but
they won't listen
to me; they say
that their own
doctors tell them "not
to worry".
I am worried; what
can I do?
A:
Family compliance
with screening is
often very challenging
to the first member
of the family to
be tested. Try to
find several members
who are willing to
have the DNA test
at least. If those
tests are confirmed,
often other members
will take new "interest" and
comply when they
see the DNA test
results in black
and white. Another
possible tactic is
to have your doctor
contact your family
members' doctors,
either by telephone
and/or letter and
urge their doctors
to screen them with
the proper blood
tests and DNA tests.
Another possible
tactic is to obtain
DNA test kits from
a lab and mail them
to family members
or bring the kits
to a family reunion,
wedding, holiday
gathering, and distribute
them at that time
and explain the importance
of the test. Finally,
if the family members
have children, urge
them to have the
DNA testing if not
for themselves, to
do it for the sake
of their children.
People often will
be tested when their
children's and grandchildren's health
is at stake. Home testing is also another way to encourage family members to be tested. By genetically testing family members at home, and avoiding the medical setting of the doctor's office, many family members will be tested. We recommend HealthCheckUSA (www.healthcheckusa.com) for genetic testing. It is fast, simple, and painless. A DNA test kit can be mailed directly to your home and is suitable for adults, children, and infants.
Q:
My pediatrician
says I don't need
to worry about
my children between
the ages of 2 years
and 18 years old
having iron overload.
He says it's an "adult
onset" disease;
is this true?
A:
No! Pediatric hemochromatosis
is very real and
more and more cases
are being identified
every day. Sandra
Thomas, President
of the American Hemochromatosis
Society, has founded
the "Children
HHelping Children" Screening & Awareness
Project to screen,
diagnose, and treat
children under the
age of 18 years with
iron overload/hereditary
hemochromatosis.
All children should
have the DNA test
ideally at birth
to ascertain their
possible risk for
HH and also have
the TS and serum
ferritin tests after
the age of two years
to see if they are
clinically iron overloaded
at that current time.
If necessary, phlebotomy
treatment should
be started in the
child if he/she is
loading too much
iron, but you should
make sure you are
using a doctor who
is familiar with
pediatric hemochromatosis.
Children with iron
overload often have
cardiac symptoms
as well as liver
disease. They have
high saturations
and fairly normal
serum ferritin readings.
More research is
needed to establish
standardized protocols
for pediatric hemochromatosis,
but it is imperative
that you know your
child's genetic risks
for HH to make sure
that your child can
have a normal life
expectancy through
preventive measures. Some of these cases may be "juvenile hemochromatosis". Only an expert in hemochromatosis will be able to truly identify the children at risk and those who have developed the disease during childhood. Liver biopsies are not recommended for children unless evident liver disease is present. A non invasive test with a ferritometer can measure the amount of iron in the liver if this measurement is needed.
Q:
If I have the double
gene mutation (homozygous)
for hemochromatosis
but am not clinically
iron overloaded
(have high iron
levels on lab results)
at this time, can
I develop iron
overload later,
such as in 2, 5,
or 10 or more years
later?
A:
Yes, patients with
the double gene may
develop iron overload
at some later time
in their lives, therefore,
they should be annually
monitored by their
physician for transferrin
saturation and serum
ferritin. It is important
to note that anyone
can develop clinical
iron overload, whether
they have one, two,
or no mutations for
HH.
Q:
If I have the single
gene mutation (heterozygote)
and am a "silent
carrier" for
hemochromatosis,
will I become iron
overloaded?
A:
Most carriers do
not become ill (have
symptoms or elevated
iron levels) during
their lifetime, however,
they should avoid
the same things that
the double gene person
does. Carriers are
at higher risk than
non-carriers for
loading excess iron
and can become iron
overloaded so they
should be annually
monitored by their
physicians. Carriers
of the single mutation,
known as "silent
carriers" should
also refrain from
heavy alcohol consumption
and/or massive vitamin
C supplementation
(you may drink orange
juice but do not
take mega doses of
vitamin C pills),
and vitamins containing
iron. Single gene
carriers are at risk
of loading high iron
and should annually
monitor their iron
levels with serum
iron, TIBC, and serum
ferritin tests.
Q:
No one in my family
has ever been diagnosed
with hemochromatosis
or had any of the
symptoms; how could
I possibly have
this disease?
A:
Many patients who
have full blown hemochromatosis
(the double gene
mutation/homozygote)
have family members
who have it also
but do not know it
or who have died
from hemochromatosis
but it was never
diagnosed as iron
overload. Also, it
is possible that
all of the family
members in the family
(living or deceased)
have also been asymptomatic
single gene mutation "silent
carriers",
lived to old age
and no one had the
double gene until
you, the double mutation
patient, were born
and your diagnosis
of the double gene
mutation was discovered.
Therefore, those
people who say they
are the "only" member
of the family are
incorrect. There
are definitely carriers
in the family, all
double gene patients'
mothers and fathers
MUST have been at
least single gene/heterozygote
carriers, and either
or both parents could
be double gene/homozygotes
as well. Many patients
ask if they got HH
from their mother's
or father's side
of the family. The
answer is that they
got it from BOTH
sides of the family;
HH is an autosomal
recessive mutation,
therefore, you must
inherit one mutated
gene from your mother
and one from your
father, for you to
have the double mutation.
Many families are
startled to learn
after an initial
diagnosis in that
family, that many
other family members
also have HH! If
both parents are
double gene, then
all of their children
will also have the
double gene.
Q:
I had the DNA test
and found out that
I have the double
gene mutation.
My husband, who
has always been
in good health,
was tested and
we were shocked
to learn that he
is a "silent
carrier" of
the single HH gene.
We know now that
our four children
have inherited
various combinations
of our HH genes
from us; two now
have been diagnosed
with hemochromatosis
and two are also
silent carriers.
Now all of our
young grandchildren
are being DNA tested
by their pediatricians.
We feel very guilty
about passing these
genes on to our
children and grandchildren...do
others feel this
way, too?
A:
As we proceed into
an era of genetic
testing, it is important
to remember that
NO ONE is free of
genetic defects.
In fact, we can estimate
at this time that
everyone has at least
three or four genetic
defects which may
or may not manifest
during our lifetimes.
As genetic testing
becomes more "mainstream" more
and more people,
like you, will learn
what their genetic
status is for various
genetic diseases.
When you consider
that people for many
generations have
died of diabetes,
cancer, etc., we
can assume that many
of these cases were
actually due to a
gene carried in the
family or a "genetic
predisposition" for
a particular disease
that has been passed
from generation to
generation. Genetic
testing is no longer
in the realm of "science
fiction" and
is quickly becoming
a powerful tool for
doctors to monitor
patients and provide
therapies which may
delay, or even prevent,
as in the case of
HH, lethal symptoms
of a disease. The
good news is that
hereditary hemochromatosis
is a genetic disease
whose symptoms, organ
damage, and premature
death can be completely
prevented! Therefore
screening and early
diagnosis are the
keys to full life
expectancy! You have
nothing about which
to feel guilt; you
are getting your
family members screened;
and, if appropriate,
into treatment. By
becoming educated
about hereditary
hemochromatosis,
you are saving lives--now
and for generations
to come!
Q:
My family and friends
have never heard
of hereditary hemochromatosis
and my doctor admits
he knows little
about it. Why doesn't
anyone know anything
about HH if it
is so common? I
feel all alone.
A:
Although it is the
most common genetic
disease in the U.S.A.,
because there is
no routine screening
for HH at this time,
most cases go undiagnosed.
HH is all around
you--your families
and your friends--they
just don't know it.
You can help increase
awareness in your
family, in your community
and save lives yourself.
You can encourage
your doctor to attend
read the AHS web
page and to attend
HH symposiums and
CME seminars held
around the country.
You are not alone;
there are thousands
of HH patients all
over the country
who feel as you do.
If you have a computer,
you can link up with
other HH patients
via the Internet or the online discussion group, "Families HHelping Families" on the AHS web site..
Q:
What is the American
Hemochromatosis
Society (AHS) and
what is its mission?
A:
The American Hemochromatosis
Society (AHS) is
the leading non profit
organization for
information on genetic
testing for iron
overload/hereditary
hemochromatosis,
and information and
support for pediatric
hereditary hemochromatosis.
AHS was founded on
March 30, 1998 by
Sandra Thomas, a
carrier of the HH
mutation and whose
mother, Josephine Bogie Thomas, was a victim
of HH and was diagnosed
in 1983 and died from complications of the disease on May 13, 1999. AHS originally was based in Delray Beach, Florida, and is now based in Lake Mary,
near Orlando, Florida.
It is a 501(c)3 non-profit
organization whose
mission is to ban
genetic discrimination,
promote genetic testing
for HH of the American
population, and emphasize
a focus on pediatric
hereditary hemochromatosis
and neonatal hemochromatosis.
More than 1.5 million
Americans who have
iron overload/hereditary
hemochromatosis and
another 32 million
Americans who are "silent
carriers" of
the single mutation,
will need to be served
with information
and support...AHS
will be there for
them. AHS serves
both physicians and
patients.
Q:
Are there any books
about iron overload
that AHS offers?
A:
Yes! A list of books
on HH by
various authors appears
on the AHS web page
and AHS president,
Sandra Thomas, is
currently writing
a book about hereditary
hemochromatosis.
An educational slide
presentation and
video are in production. AHS also has free educational materials which can be mailed to patients and their families. Please send a self addressed business envelope with two stamps.
Q:
How can I get more
information from
the American Hemochromatosis
Society (AHS) on
iron overload/hemochromatosis
by email and the
Internet?
A:
You can email Sandra
Thomas, President,
American Hemochromatosis
Society, at: mail@americanhs.org
The web page address
is: www.americanhs.org
AHS has it's own discussion group called, "Families HHelping Families". See the web site for more information on how to join this group.
Q:
How can I get more
information from
AHS on iron overload/hemochromatosis
by mail? How can I make a donation to AHS?
A:
For free information
by mail write to
the AHS directly
(Please, enclose
a self-addressed
envelope with two
stamps):
American
Hemochromatosis
Society, Inc. (AHS)
(non-profit)
Sandra Thomas, President/Founder,
4044 W. Lake Mary Blvd., #104, PMB 416,
Lake Mary, Florida 32746-2012 USA
Telephone: 407-829-4488
Toll-free Hotline: 1-888-655-IRON (4766)
(Due to the volume of mail, please allow four to six weeks for
delivery)
If you would like to make a memorial donation or a donation in someone's honor, please indicate that information with your donation. AHS is a 501c3 non profit organization and all donations are gratefully received.
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