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Hemochromatosis

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 (uroporphyrinogen decarboxylase) involved in 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 the population carries the gene that causes Iron Overload.

When someone inherits this gene from both parents, he or she may absorb too much iron from their normal diet. This iron will be stored in the liver and several other tissues in the body and can cause a great number of symptoms. These symptoms, as a cause of Hemochromatosis, can be found in babies and small children, but it is most common above the age of 40.




WATCH FOR:

CHRONIC FATIGUE
INCREASED SUSCEPTIBILITY FOR INFECTIONS
LIVER FUNCTION ABNORMALITIES
ARTHRITIS
DIABETES
LOSS OF LIBIDO AND IMPOTENCE
INFERTILITY
SWOLLEN STOMACH
HEART COMPLAINTS
SHORTNESS OF BREATH
SKIN PIGMENTATION
(bronze or grey coloured skin)
LOSS OF WEIGHT
DECREASE OF BODY HAIR
EARLY MENOPAUSE
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 because of the great variety of complaints caused by the excess iron.

Chronic fatigue is most often mentioned, and one article is entirely devoted to this problem. This article states for example: "Fatigue is the most commonest symptom present at diagnosis regardless of whether cirrhosis is present or not."

Although also a symptom of liver failure and cirrhosis, fatigue is often a prominent symptom of precirrhotic haemochromatosis with normal liver functions, suggesting that it is iron 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 presenting with 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 for haemochromatosis and sometimes even liver function tests are not included".


Patient's Can Also Include The Following Symptoms
When Checking For Hemochromatosis


SYMPTOMS INCLUDE
DIARRHOEA
CONSTIPATION
DEPRESSION
CRAMPS
HAIR LOSS
IRRITABILITY
LESS APPETITE
FAINTING
CONFUSION
IMMUNE-DISORDERS
LESS CONCENTRATION
SLEEPING PROBLEMS
FOOD INTOLERANCE
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 chance of having Hemochromatosis. This 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 above 200, there should be further examination to establish the diagnosis.

With a DNA-test (cheapest is $78) the diagnosis is confirmed in about 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 with more precision.

When there is doubt about the diagnosis or the biopsy is refused, for understandable 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. As mentioned before, doctors underestimate the problem of iron overload and use too high serum values for their "normal range" 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 screening. 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 supplements. After what you have read here, it should be clear that iron supplements should not be taken before one is thoroughly examined including the above mentioned tests.

This is not always done and can have possible negative consequences. If you used iron-supplements (in great quantities?) in the past, without being thoroughly examined, 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. When bloodletting is not possible there are alternative options. After treatment, most complaints usually disappear.

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]
http://www.americanhs.org
Please send a SASE with two stamps for free AHS educational brochures.




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