Is a genetic condition in

which iron is
abnormally(excessively)
absorbed from the
gastrointestinal tract.
Eventually, the affected
organs become
dysfunctional.
 The exact prevalence of classic hereditary
hemochromatosis is unknown. In individuals of
Northern European descent the prevalence is
estimated to be as high as 1 in 227 individuals in
the general population. Approximately 10
percent of the Caucasian population is estimated
to be a “carrier” for classic hereditary
hemochromatosis (i.e., has one mutation of
the HFE gene). Some individuals who have
genetic mutations that cause classic hereditary
hemochromatosis do not develop symptoms of
the disorder, making it difficult to determine the
true frequency of classic hereditary
hemochromatosis in the general population.
 It
is seen more on men than women.
 Consequently, iron accumulation is slower in
women than men, and the average age of
diagnosis for women is approximately 10
years later than in men (usually after
menopause).
>Hereditary (classic) hemochromatosis, also
known as HFE-related hemochromatosis or
hemochromatosis type I
>Hemochromatosis type 2 (juvenile
hemochromatosis)
>Hemochromatosis type 3, also known as TFR-
related hemochromatosis
>Hemochromatosis type 4, also known as
ferroportin disease.
 Having 2 copies of a mutated HFE gene – This is the
risk factor for hereditary hemochromatosis.
 Family History – if you have a first degree relative,
a parent or a sibling with hemochromatosis, you’re
more likely to develop the disease.
 Ethnicity – People of Northern European descent
are more prone to hereditary hemochromatosis
than are people of other ethnic backgrounds. Less
common in African-Americans, Hispanics and Asian-
Americans.
 Sex- Men are more likely than women to develop
signs and symptoms at an earlier age.
 Weakness
 Lethargy
 Arthralgia
 Weight loss
 Loss of libido
 Skin (hyperpigmented)
 Cardiac dysrhytmia
 Cardiomyopathy
 People with HH will usually, but not always
have signs and symptoms.
 Patients typically have a ruddy complexion
and splenomagaly.
 Pruritus
 Erythromelalgia
 Serum Ferritin
Ferrin is a protein that stores iron in the
body. Serum ferritin production increases when
excess iron is absorbed. It is the most reliable
indicator of of total body iron stores.

 TransferrinSaturation
Measures the level of iron in the blood
against the body's capacity to store iron.
 No special diet is required, moderate
amounts of iron-rich food does not worsen
the condition. However, they should be
instructed to avoid vitamins or supplts
containing iron or vitamin C, which can
increase iron absorption.
 Avoid alcohol and uncooked seafood
 Monitor signs and sypmtoms of other body
systems organ dysfunction particularly the
endocrine and cardiac systems
 Therapeutic phlebotomy
Risk for impaired liver function
related to high levels of iron
accumulated in the liver.
Risk for impaired cardiovascular
function related to iron
accumulation in heart tissues.
Acute pain may be related to
excess iron resulting in calcium
crystals in joint tissues.
 Common conditions associated with
hereditary hemochromatosis genetic
variants: cohort study in UK Biobank
(BMJ,2019) Conclusion: in a large community
sample, HFE p. C282Y homozygosity was
associated with substantial prevalent and
incident clinically diagnosed morbidity in
both men and women. Associated iron
overload is preventable and treatable if
intervention starts early, these findings
justify re-examination of options for
expanded early case ascertainment and
screening.
 Medical-Surgical Nursing 10th Edition by
Brunner & Suddartth
 https://rarediseases.org/rare-
diseases/classic-hereditary-
hemochromatosis/
 https://www.bmj.com/content/364/bmj.k52
22.abstract?fbclid=IwAR3yW-
C7pB4skMZ6zGb2LyCZpTlsXkDsw1abhX6AdELZ
rbIDcG1U0HhKv5w
 Hemochromatosis is one of the most common
genetic disorder in the US, which effects
about 1 in 200 people.

 Women are less likely to develop

hemochromatosis because they lose iron due
to menstruation and pregnancy.