Hereditary Hemochromatosis

abdominal pain

Symptoms

Because iron buildup to a level that would cause symptoms often takes many years, symptoms are rarely seen in children. Although hereditary hemochromatosis is present from birth, it is often thought of as an older person's disease because of the delay in visible symptoms. The CDC lists the following as possible EARLY signs and symptoms:

  • fatigue
  • weakness
  • weight loss
  • abdominal pain
  • arthralgia (joint pain)
  • graying or bronzed skin

As iron accumulation progresses, patients may also experience arthritis and symptoms of gonadal failure.

Screening

While there are currently no newborn screenings for hereditary hemochromatosis, proposals for newborn screening, routine child screening at age 4, and routine adult testing at age 20 have all been made due to the prevalence of the condition.

Diagnosis

A hereditary hemochromatosis diagnosis will most likely be made upon discovery of high levels of iron in the blood through a blood draw. Your doctor may also want to perform DNA testing to confirm the presence of the gene mutation. This information can be useful for other family members who may also have the mutated gene present.

{ MORE: Gene Therapy and Children }

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Hereditary Hemochromatosis

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