CHAPTER 12

Hemochromatosis

CHAPTER OBJECTIVES

• Describe etiology and forms of hemochromatosis.
  
• Detail phenotypic features, symptoms, and physical examination findings associated with hemochromatosis.
  
• Discuss sex-influenced phenotype, variable expressivity, and penetrance.
  
• Review current treatment and surveillance recommendations for hemochromatosis.

KEY TERMS

Acute-phase reactant

Cardiomyopathy

Carrier

Chelating agent

Cirrhosis

Compound heterozygote

Hepatic ultrasound

Hepatitis

Hepatoma

Hepatomegaly

Hereditary hemochromatosis

Penetrance

Point mutation

Polymerase chain reaction (PCR)

Serum ferritin levels

Serum iron levels

Sex-influenced phenotype

Synergistic hepatotoxic effects

Therapeutic phlebotomy

Total iron-binding capacity (TIBC)

Transferrin

Transferrin saturation levels

Variable expressivity

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Related

Related posts:

1. Introduction
2. Chronic Myelogenous Leukemia
3. Hereditary Cardiomyopathies
4. Ethical, Legal, and Social Issues

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