is the most common genetic disorder.
Another name for it is
Porphyria cutanea tarda.
It is the most common type of porphyria.
Prophyria cutanea tarda (PCT) is due to a defective enzyme
in the liver
synthesis of the red pigment in
blood cells (haem).
Approximately 1 in 200 to
300 humans have this disorder.
Most doctors still think it is a rare disorder.
But about 10% of
carries the gene that causes
When someone inherits
this gene from both
he or she may
absorb too much iron
from their normal diet.
This iron will be stored
and several other
tissues in the body
and can cause a great
symptoms, as a cause of Hemochromatosis,
can be found in babies and small children,
but it is most
common above the age of 40.
INCREASED SUSCEPTIBILITY FOR INFECTIONS
LIVER FUNCTION ABNORMALITIES
LOSS OF LIBIDO AND IMPOTENCE
SHORTNESS OF BREATH
(bronze or grey coloured skin)
LOSS OF WEIGHT
DECREASE OF BODY HAIR
PORPHYRIA CUTANEA TARDA
Every doctor should consider Hemochromatosis in his diagnose
when there is no direct cause found
for one of the above complaints.
Striking is that not all of these complaints are mentioned
in every publication.
This is probably
of the great variety of complaints caused
by the excess iron.
Chronic fatigue is most often
and one article is
entirely devoted to this problem.
This article states for example:
"Fatigue is the most commonest symptom
regardless of whether cirrhosis is
present or not."
Although also a symptom of liver failure and cirrhosis,
fatigue is often a
symptom of precirrhotic
haemochromatosis with normal liver functions,
suggesting that it is
overload per se that causes this symptom".
A number of studies have examined the
usefulness of a
variety of investigations
in the assessment of patients
chronic fatigue in general practice.
In general such investigations have not proved useful as
only a low yield of abnormal results has been found.
However, such studies have not
included screening tests
haemochromatosis and sometimes even liver function tests are
Patient's Can Also Include The Following Symptoms
When Checking For Hemochromatosis
CHANGE IN BODY TEMP'S
There are doctors who state that patients with a diagnosis of Fibromyalgia,
CFIDS or Irritable
Bowel Syndrome (IBS) have a greatly increased
of having Hemochromatosis.
sound logical, but until now there has been nothing
published about this in the scientific magazines.
A first diagnosis can be made most cost-effectively by measuring the
Transferrin Saturation %
and the serum ferritin
(by taking some blood from the patient).
When the T.S. is above
50% (man); 60% (woman)
and/or ferritin is
there should be
further examination to
establish the diagnosis.
With a DNA-test (cheapest is $78) the diagnosis is confirmed
85% off all cases.
A liver biopsy, until recently
"the gold standard" ,
is not necessary for the
diagnosis of hemochromatosis
but your doctor can ask for this to establish the diagnosis
When there is doubt about the diagnosis or the biopsy is refused,
reasons, a trial of phlebotomy
can establish the final diagnosis.
A liverbiopsy however
could be useful to estimate the damage on the liver.
Also an eventual anemia (shortage of iron) should be tracked this way.
Measuring of hemoglobin
and/or hematocrit does not give a certain
diagnosis and they are therefore of no use for the diagnosis
of this disorder!
Be sure to know your own exact T.S.% and serum ferritin level.
before, doctors underestimate the problem
of iron overload
and use too high serum values
and/or do not respond when they are elevated.
This is concerning as it is essential to intervene as quickly as possible.
For this reason, several
investigations and (medical-) organizations
dispute for the
preventive screening of the whole
population on Hemochromatosis.
According to them this should be done with everyone above the
age of 20 years.
Despite overwhelming evidence supporting the necessity of screening,
several investigators and mainstream medical organizations still dispute
the benefits of preventive
There are some laboratoties where the T.S. is always measured.
They find 80% of the
patients before any damage has occured.
Most people still think that when you are tired
you should take iron
After what you
have read here, it should be clear
iron supplements should not be taken before one is thoroughly
including the above mentioned tests.
This is not always done and can have possible negative
If you used iron-supplements (in great quantities?) in the past,
you should ask for these tests.
The treatment of Hemochromatosis is simple and
cheap, with namely bloodletting.
With this method
excess iron is removed easily and quickly
in large amounts in the most efficient way.
bloodletting is not possible there are alternative options.
After treatment, most complaints usually
If you want more information on hemochromatosis, you can contact:
American Hemochromatosis Society, Inc.
777 E. Atlantic Avenue, Z-363
Delray Beach, Florida USA 33483-5352
Email: [email protected]
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