Wednesday, October 8, 2008 - 4:46AM EST

Diagnosis of Hereditary Hemochromatosis

Differential Diagnosis of Hereditary Hemochromatosis

A variety of other conditions can cause iron overload and should be considered in the differential diagnosis of hereditary hemochromatosis. These conditions include:

  • Hematological disorders
  • Chronic liver diseases
  • Other causes of iron overload

Hematological Disorders

  • Thalassemia major - a hereditary blood disorder that affects a person's ability to produce hemoglobin.
  • Sideroblastic anemia - an enzyme disorder that prevents the body from incorporating iron into hemoglobin leading to iron overload
  • Chronic hemolytic anemia - a chronic hemolytic disorder in which red blood cells are destroyed faster than the bone marrow can produce them
  • Aplastic anemia - a condition where the bone marrow produces insufficient amounts of red blood cells, white blood cells, and platelets.

Chronic Liver Diseases

  • Hepatitis
  • Alcoholic liver disease
  • Porphyria cutanea tarda - a condition resulting from an enzyme disorder that leads to the accumulation of porphyrins (pigments) in the liver and causes skin blistering when exposed to sunlight.

Other Causes of Iron Overload

  • Transfusion of red blood cells
  • Long-term hemodialysis
  • Aceruloplasminemia - an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurologic symptoms.
  • Excess oral ingestion of iron supplements