Nancy Jane.well said.I am still under treatment and have a few mor bleedings
to go
and hope I will be in the NORMAL zone.25-50 ferritin.I have had weekly
plebotomies
since Nov 1999 and am progressing well along.
Please express the need to ck this out not only Cagles but ALL people.You may
tell
everyone about me and this problem EXCEPT my name.Keep up this good work and
remember that 1 in 250 people have this genetic problem and it is controlable
with proper diagnosis and treatment.The only alternative is death via
coronary,or diabetes,or liver cerosis,or liver cancer.I face all of these
possibilities at present.I am thankful to you for the suggested problem in
this family and advise ALL people of northern european genealogy to ck out
this problem. Everyone should go to the web site, Heriditary Hemochromatosis
and read about this problem.It's real!!!!!
ANYONE with a darkening of their skin,or needing thyroid(hypothroid),or
arthritis
in the hands,especially the index finger and the next finger,should suspect
HH.Heriditary Hemochromatosis.Some of us Cagle clan say that that is the
Cherokee coming out in us which is HH.The test is simply a test of excess
iron when having other blood tests and will indicate a raised level of
iron.Then you should go further with a more detailed test.If your iron level
is normal.
some info below:
HEMOCHROMATOSIS HEREDITARY
Hereditary Hemochromatosis,[HH]
is a genetic condition of iron overload affecting approximately 1 out of
200-300 people, with 1 in 8-10 people being carriers.
It is 100% fatal if not diagnosed early & treated aggressively, yet with
early diagnosis & treatment, one can expect a normal life span.
In this table you will find many of the symptoms or problems that may be
associated with this condition.
PRIVATE
HEART
chest pain, shortness of breath, fatigue
arrythmias, rapid pulse, irregular heartbeats
cardiomegaly
congestive heart failure [CHF]
heart attack < 50 yrs. old
LIVER
cirrhosis, [even if you are not a drinker!]
cancer of the liver
elevated liver enzymes, liver failure
abdominal pain, tenderness, especially in the right side
PANCREAS
cancer of the pancreas
diabetes
"bronze diabetes"
REPRODUCTIVE SYSTEM
decreased libido, impotence
hypogonadism
infertility, sterility
irregular menses
early menopause
JOINTS
arthritis & pain in the joints, often seen in the knees, hips & the first 2
fingers
joint replacements
CPPD
psuedogout
PSYCH- OLOGICAL
depression
confusion
memory loss
psychiatric disorders
OTHER AREAS that may be affected and/or symptoms:
pituitary gland
hypothryroidism
rusty or gray tone to the skin, hair loss or early graying
always feeling cold
frequent infections, flus, colds, weakened immune system
In addition to all of the above, it may even be misdiagnosed as:
Fibromyalgia [FM]
Chronic Fatigue Syndrome [CFS]
Lupus
Rheumatoid Arthritis[RA]
The lab tests that you should ask your doctor to do are:
Iron
Ferritin
Total Iron Binding Capacity [TIBC]
Transferrin Saturation[TS]
- ------------------------------------------------------------
Fact Sheet , #2
1. Undetected and untreated excess iron kills after inflicting injury to a
variety of body organs.
2. The patient's and physician's concern must be to detect any excess iron
instead of establishing
a diagnosis of hemochromatosis.
3. A complete physical must include: Total Iron Binding Capacity (TIBC) and
Serum Iron (SI).
Divide the SI by TIBC for percentage of Transferrin Saturation TS. Normal
range: 12-45%.
4. If TS is outside normal range, use the same blood to measure Serum
Ferritin (SF). Normal range: 5-150. If an individual is outside the normal
range on Serum Ferritin, a phlebotomy
program should be started to bring the SF below 10. Ferritin is the closest
measure of stored iron.
5. To reduce elevated iron levels, the patient should be given a prescription
for weekly or twice weekly bloodlettings at a blood bank to confirm or rule
out iron overload. The hematocrit cutoff should be set between 30-35. Anemic
patients might benefit from B complex vitamins with folic acid.
6. A liver biopsy is not necessary to confirm diagnosis.
7. If iron tests low, the cause should be found: the bleeding ulcer, cancer,
or chronic infection. It is dangerous to medicate with iron without 1.
testing iron and 2. knowing the reason for the deficiency.
8. In the matter of DNA testing, we are not recommending this approach. All
of the genes that can cause an overload are not yet discovered - about 15%
yet outstanding. Jerome Sullivan MD PhD explains that possession of the gene
" will confirm but will not exclude the diagnosis. "
9. Diagnosis not followed by vigorous treatment is useless. The patient must
be motivated to unload the iron as fast as possible by weekly or twice weekly
phlebotomies at the blood bank. Goal: ferritin below 10 or even 0.
10. All blood relatives of the patient must be evaluated and monitored. They
should all be checked for iron overload at each and every physical for the
rest of their lives.
11. Iron overload cannot be controlled with diet. High iron foods also
contain other nutrients needed to repair body damage. We do not recommend a
low iron diet. Caution: avoid over-the-counter vitamin C and additives of
such. Avoid raw seafood, which kills a number of people every year, mostly
those whose excess iron is undetected.
12. Symptoms vary too much to help with diagnosis. Chronic fatigue,
arthritis, heart disease, cirrhosis, cancer, diabetes, thyroid disease,
impotence, sterility. In other words excess iron is toxic and can injure
every part of the body, including the brain. Elevated liver enzymes must not
be ignored. Anemia can be a symptom. Some anemias are iron-loading.
Hemoglobin level does not indicate iron status.
13. Excess iron lowers the immune system. Many diseases will show a poor
outcome unless excess iron is removed: AIDS, cancer, and hepatitis, for
example.
14. Iron does cross the blood brain barrier, contrary to an old belief.
Excess iron stored in the brain has been found to trigger or exacerbate
severity in Alzheimer's, multiple sclerosis, ALS, Parkinson's and other
diseases. Psychological problems have even been linked to excess iron.
15. Hereditary hemochromatosis is only one of several iron loading diseases.
But its double gene frequency alone is 1 in 200 of the US population have the
single gene expression.. It is the most common genetic disease, and
tragically the most undiagnosed.
16. The goal of medicine is to provide maximum preventative care at the least
expense. Patients must be aware of iron overload for their own protection.
IOD honors the increasing number of physicians who are updating their
information on iron overload.
IOD
433 Westwind Drive
North Palm Beach FL 33408-5123 561-840-8512 fax 561-842-9881
iod(a)ironoverload.org
Copyright ©1998 by Iron Overload Diseases Association, Inc. - ALL RIGHTS
RESERVED
- ----------------------------
Medical History of Hemochromatosis~~1865 to 1998
Medical History of Hemochromatosis:
The first recorded mention of the disease was made by a Frenchman, Trousseau
in 1865. To Trousseau the disorder was a triangle of diabetes, liver
cirrhosis and pigmented skin. The H word was contributed in 1889 by Dr. von
Recklinghausen.
In 1935 Dr. Joseph H. Sheldon wrote a famous monograph, which presented the
disease as an inborn error of metabolism that resulted in multiple organ
damage. Dr. Sheldon further explained the condition is genetic. Tests to
measure iron levels didn't appear until 1925, serum iron only, not very
informative, but better than nothing; Total Iron Binding Capacity (TIBC) in
1944 and ferritin in 1956. Normal limits were set too high to be useful. The
very simple treatment of bloodletting was not thought of until the 1950's.
Today, phlebotomy is the treatment of choice, once, twice, or even three
times weekly until iron stores are normal. With the discovery of the H gene
mutation, announced in the August 1996 issue of Nature Genetics by Mercator
Genetics, Inc. (now Progenitor) of Menlo Park, California, a new commercial
genetic test is now nationally and internationally available from SmithKline
Beecham Clinical Laboratory, dozens of university labs, and independent labs,
enabling people to know if they are a carrier of the single or double gene
mutation for hemochromatosis.