What is hemochromatosis?
Who is at Risk for Hemochromatosis?
Is there a special test for HHC

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Yes. A set of tests known as an IRON PROFILE (after fasting), from which the
TRANSFERRIN SATURATION PERCENTAGE can be calculated by dividing the total iron
binding capacity (TIBC) into the serum iron. A transferrin saturation
percentage of 55% or higher, and/or a serum ferritin over 200 ug/litre warrants
further investigation.
Jul-99

HEREDITARY HEMOCHROMATOSIS

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.

HEART
 chest pain, shortness of breath, fatigue
 arrythmias, rapid pulse, irregular heartbeats
 cardiomegaly
 congestive heart failure [CHF]
 heart attack

LIVER
 cirrhosis,
 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

PSYCHOLOGICAL
 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]
 Alzheimers [AD] or Parkinsons
Is there a connection to iron in the brain?

The lab tests that you should ask your doctor to do are:

Iron

Ferritin

Total Iron Binding Capacity [TIBC]

Transferrin Saturation[TS]

 Hemochromatosis, or iron-overload disease, is a disease in which the body
accumulates and stores too much iron. In fact, some people have so much excess
iron in their {*filter*} that they can set off metal detectors in airports (see:
Airports: Do You Set Off The Metal Detectors? ).

The origin of the word "hemochromatosis" helps describe the nature of this
particular disorder. Hema or hemo are Latin for {*filter*}. Chroma refers to hue or
color; one result of iron-overload for some people is a bronze or rust color of
their skin. Osis means disorder or pathology.

Approximately 90% of hemochromatosis cases are hereditary hemochromatosis.
Hereditary hemochromatosis runs in families, and is associated with an
inherited mutation in one particular gene, HLA-H , on chromosome 6.
Hemochromatosis is an autosomal recessive genetic disorder, meaning that a
person has to inherit two copies of the mutation, one from their mother and the
other from their father, for the disease to be expressed.

Just because a person has two copies of the mutation does not mean they will
automatically get the disease (Iron Overload Disease Foundation). In addition,
there is variability in how the disease is expressed, in part due to how much
iron is retained. Thus there is also variability in the intensity of symptoms
between people who are at risk. Disease expression may depend on environmental
and cultural factors, such as how much iron in consumed. Variation in the
mutation itself may also impact the expression of the disease.

People who believe they are at an increased risk because members of their
family have been affected or because they know they have the double gene
mutation, can begin early monitoring of {*filter*} iron levels. They may want to
lower their dietary intake of iron. They may want to start donating {*filter*}
regularly to help prevent or retard the onset of the disease. Donating {*filter*}
helps remove excess iron for people with elevated iron levels. For those people
who have hemochromatosis, removing {*filter*} regularly is the only known treatment
for the disease (see: Is There a Treatment? ).

Hereditary hemochromatosis is now thought to be "the most common inherited
disease that is known" ( Science News , Jan. 18, 1997). More people are
affected by hemochromatosis than some other, and better known, genetic
conditions, such as cystic fibrosis and sickle cell anemia . The disease can be
fatal if not properly treated.

In the US, an estimated 10% of the population, or about 27 million people,
carry one copy of the mutated gene (Bulaj et al., 1996). Carriers of just the
one mutation rarely have symptoms of hemochromatosis, but often have elevated
{*filter*} iron levels. An estimated 1.5 million people have two copies of the
mutated gene and thus are at a greater risk for getting hereditary
hemochromatosis (Sanderson and Schmidt, 1996; Science News , Jan. 18, 1997).

As many as 90% of hemochromatosis sufferers do not even know they have the
disease. Because hemochromatosis was once believed to be rare, and because its
symptoms are subtle and not easily distinguished from symptoms of other disease
conditions, making a correct diagnosis of hemochromatosis has been difficult in
the past. Doctors are just beginning to understand hemochromatosis and how to
correctly diagnosis it in their patients.

Hemochromatosis was once thought to affect primarily men of northern European
decent. Medical research in the last few years is debunking that belief.
Hemochromatosis is now thought to affect people in other populations, for
example, persons of Hispanic decent are equally at risk (Centers for Disease
Control; Rouault, 1993; Edwards and Kushner, 1993). African Americans are not
immune either (Barton et al., 1995). The genetic transmission of the disease
predicts that hemochromatosis should effect equal numbers of men and women.
However, males are 8 times more likely to show symptoms of the disease. It is
thought that since women lose {*filter*} regularly during their menstrual cycles
("periods") that women reduce the symptoms of the disease's expression, since
iron in the {*filter*} is removed along with the loss of {*filter*}. Women may also tend
to have diets lower in iron, thus also reducing the effects of expressing the
hemochromatosis mutation. However, a recent study ("Clinical Features of
Genetic Hemochromatosis in Women Compared with Men," R. Moirand, et al, in
Annuals of Internal Medicine , July 15, 1997;127:105-110.) casts doubt on the
notion that women suffer less severe symptoms of hemochromatosis than do men.