Exploring the Causes, Diagnosis, and Management of Iron Overload
Disorder
Hemochromatosis is a common genetic disorder characterized by excessive iron
absorption from foods. It occurs due to a defect in a gene that regulates the
absorption and storage of iron in the body. This defect causes the body to
absorb too much iron from foods consumed without any ability to regulate the
levels. Over time, the excess iron accumulates in vital organs like the liver,
heart and pancreas and can cause serious tissue damage and organ failure if
left untreated.
Types of Hemochromatosis
There are two main types of hemochromatosis – hereditary and secondary.
Hereditary Hemochromatosis
Hereditary hemochromatosis, also called primary hemochromatosis, is the most
common form. Hemochromatosis
is an autosomal recessive condition passed down through families. The
faulty gene controlling iron absorption can be inherited from both parents even
if they do not have symptoms themselves. Symptoms usually appear later in life,
often between the ages of 40-60 years. A simple blood test can detect the
genetic mutation associated with this type of hemochromatosis.
Secondary Hemochromatosis
Secondary hemochromatosis develops as a result of other conditions that cause
iron overload. These include certain blood disorders like thalassemia major
which requires frequent blood transfusions, hepatitis C which interferes with
iron excretion, andrare metabolic disorders affecting iron metabolism. It can
also occur as a side effect of chemotherapy treatments or from drinking
contaminated well water with high iron content. Unlike hereditary hemochromatosis,
secondary type is not inherited and usually requires treatment of the
underlying condition.
Signs and Symptoms
In early stages, hemochromatosis often presents no visible symptoms. As iron
accumulates over years, it leads to progressive damage of vital organs like:
– Liver: Fatty degeneration and
cirrhosis of the liver are usually among the earliest signs. This can cause
abdominal pain, fatigue and weakness.
– Skin: Pigmentation changes like
bronze/grey coloring of skin are a classic symptom.
– Joints: Arthritis and joint pain
due to chondrocalcinosis or calcium deposits.
– Heart: Congestive heart failure
and arrhythmias from iron overload on the heart.
– Pancreas: Diabetes mellitus from
reduced insulin production in later stages.
– Hypogonadism: Low sex hormone
levels from iron deposition affecting gonads.
Other occasional symptoms include impotence, loss of libido, stomach pain,
swelling and numbness or tingling in hands or feet. The severity and
presentation depends on how much iron has accumulated over the years.
Diagnosis and Tests
A complete blood evaluation along with specific iron studies help diagnose hemochromatosis:
– Serum ferritin: This protein
stores iron in the body. Levels >300 mcg/L in a male or >200 mcg/L in a
female indicate iron overload.
– Serum iron and transferrin saturation:
Measures amount of iron bound to transferrin carrier protein. Elevated levels
point to excess iron.
– Liver biopsy: Considered the gold
standard to measure iron deposition in cells and confirm diagnosis.
– Genetic testing: Identifies
mutations in HFE gene related to hereditary hemochromatosis.
– Other tests like liver function tests and blood counts are also done based on
clinical signs.
Treatment and Management
Phlebotomy or therapeutic blood removal is the primary treatment to remove
excess iron from the body gradually over time. Regular phlebotomy sessions
under medical guidance help bring down iron levels and prevent organ damage:
– Initial phlebotomies are more frequent at weekly or bi-weekly intervals to
draw 500ml blood each time until levels normalize.
– Maintenance phlebotomies are then continued at less frequent intervals,
usually every 2-4 months for life to keep iron in check.
– Dietary changes to reduce iron intake from supplements, shellfish and red
meat also help control levels.
– Patients should have regular monitoring of iron indicators and watch for
signs of overload between treatments.
– Liver transplantation may be considered for advanced cirrhosis in selected non-responsive
cases.
Early diagnosis and consistent lifelong management can help reverse the damage
and prevent hemochromatosis symptoms from worsening over the years. Prompt
medical care gives patients with this condition a normal life expectancy.
Periodic screening of family members also aids in detection.
Hemochromatosis: Preventing
Complications
Regular monitoring and adherence to the treatment plan are crucial for
preventing serious complications in hemochromatosis. Key steps include:
Strict compliance with phlebotomy schedule
Following the frequency and duration of blood removal as advised by the doctor
based on individual iron levels prevents iron from building up again over time.
This is critical to halting further organ damage.
Dietary modification
While a complete avoidance of iron-rich foods is not required, reducing
consumption of supplements, red meat and shellfish helps control iron
absorption levels between phlebotomies. Cookware without iron glazes should
also be used.
Screening of family members
Genetic screening aids in detecting carrier family members so they can get
regular iron tests and make lifestyle tweaks before symptoms develop if needed.
Early diagnosis allows for prompt intervention.
Get More Insights On- Hemochromatosis
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Priya Pandey is a dynamic and passionate editor with over
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