HAEMACHROMATOSIS

PRESENTED BY:
Aubrey Shen F. Balicudiong
BSEd2-Science1
• Haemochromatosis is a disorder of
abnormal iron metabolism which
causes increased absorption and
pathological iron deposition in
the liver and other organs, leading to
disease.
• The first known case report was
presented in 1865 by the French
doctor Trousseau, who described a
new syndrome involving diabetes,
pigmented liver cirrhosis and bronze-
coloured skin, later referred to as
«bronze diabetes».
Mode of Inheritance
Autosomal Recessive
Types 1, 2, and 3 hemochromatosis are
inherited in an autosomal recessive pattern,
which means both copies of the gene in each
cell have mutations. Most often, the parents of
an individual with an autosomal recessive
condition each carry one copy of the mutated
gene but do not show signs and symptoms of
the condition.
• 25% chance to have hemochromatosis
• 50% chance to be a carrier like each parent
• 25% chance to have two working copies of the
genes causing hemochromatosis, meaning the child
is unaffected and is not a carrier.
Mode of Inheritance
Autosomal Dominant
Type 4 hemochromatosis is
distinguished by its autosomal
dominant inheritance pattern. With
this type of inheritance, one copy of
the altered gene in each cell is
sufficient to cause the disorder. In
most cases, an affected person has one
parent with the condition.
• 50% to inherit hemochromatosis
• 50% chance to be unaffected
Symptoms and
Manifestations
Other Information

Treatment for hemochromatosis may include reducing iron

levels by removing blood (phlebotomy), iron chelation
therapy, dietary changes, and treatment for
complications of the disease. The goal of treatment is to
reduce the amount of iron in the body to normal levels,
prevent or delay organ damage from excess iron, and
maintain normal amounts of iron throughout the
lifetime.
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