Hereditary Hemochromatosis (Online Course)

(based on 231 customer ratings)

Author: Rebecca J. Laudicina, PhD, MLS(ASCP)CM
Reviewer: Vicky LeGrys, DA, CLS(NCA), MT(ASCP)

Hereditary hemochromatosis is a disorder of iron regulation that can over time lead to widespread organ damage, a variety of chronic disorders, and even death. Early detection may permit treatment before the development of substantial iron overload. The laboratory technologist plays a major role in detecting and controlling this disease. In this course, you will learn about the basics of iron metabolism, the signs and symptoms of hemochromatosis, how it is treated, and the laboratory tests and procedures that are vital to its diagnosis and maintenance.

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Continuing Education Credits

Objectives

  • Describe basic aspects of normal iron metabolism.
  • Explain the pathophysiology of iron overload associated with hereditary hemochromatosis (HH).
  • Discuss mutations associated with HH, including prevalence in various ethnic groups and penetrance.
  • List early and late clinical signs and symptoms of HH.
  • Evaluate screening and confirmatory laboratory tests used in detection and diagnosis of iron overload and HH.
  • Describe initial and long-term treatment and management options for HH.

Customer Ratings

(based on 231 customer ratings)

Course Outline

  • Introduction
      • Introduction
      • HH is the most common cause of which of the following conditions?
  • Normal Iron Metabolism
      • Overview of Iron Metabolism
      • Storage Iron
      • Iron Intake and Recycling
      • Regulation of Iron Equilibrium
      • Iron Transport
      • Which compound normally contains the majority of the body's total iron?
      • What is a mobilizable, water-soluble form of storage iron that is bound to protein?
      • What percentage of dietary iron is normally absorbed daily?
      • Decreased levels of hepcidin are related to __________ iron absorption into the bloodstream.
      • What is the protein that carries iron in the blood plasma?
  • Pathophysiology of Iron Overload in HH
      • Altered Iron Absorption
      • Development of Iron Overload
      • What is the fundamental defect involving iron metabolism in HH?
  • Mutations Associated with HH
      • HFE and Other Genes
      • Specific HFE Mutations
      • Epidemiology of HFE Mutations
      • Incomplete Penetrance
      • Prevalence of HFE Mutations
      • Mutations in which gene account for the majority of cases of HH?
      • How is the function of HFE protein altered in the C282Y mutation?
      • Which genotype accounts for the greatest percentage of cases of HH?
  • Diagnosis
      • General Clinical Considerations
      • Signs and Symptoms of HH
      • Diagnosing HH
      • Example of a Testing Algorithm Using Transferrin Saturation as an Initial Test
      • Which of the following characterizes the early signs and symptoms of HH?
      • Which of the following are needed for a diagnosis of HH?
  • Laboratory Testing for HH
      • General Overview of Laboratory Testing
      • Serum Iron (SI)
      • Transferrin (Tf) and Total Iron Binding Capacity (TIBC)
      • Transferrin Saturation (TS)
      • Serum Ferritin (SF)
      • Unsaturated Iron Binding Capacity (UIBC)
      • Molecular Tests for Genetic Mutations
      • Definitive Tests for Iron Overload
      • Quantitative Phlebotomy
      • Screening for Hereditary Hemochromatosis
      • What laboratory test reflects circulating iron that is bound to transferrin?
      • What would you expect the serum iron (SI) and total iron binding capacity (TIBC) to be in a person with HH?
      • Which laboratory assay is considered to be a confirmatory test for HH?
      • Why is serum ferritin (SF) a less than optimal screening test for HH?
      • What unsaturated iron binding capacity (UIBC) result is consistent with a diagnosis of HH?
      • Which statement best describes the use of the liver biopsy in suspected cases of HH?
  • Treatment and Management of HH
      • Rationale for Treatment
      • Initial Treatment
      • Maintenance Therapy
      • Other Treatments
      • Prognosis and Mortality
      • What is a typical schedule for phlebotomy during the initial treatment phase for HH?
      • What drug may be used to decrease iron levels in patients with iron overload?
      • How long should therapy continue for patients with HH?
      • What is the major determinant of prognosis for patients with HH?
  • Case Study
      • Case StudyAndrew is a 49-year-old Caucasian male who is seen by a primary care doctor. He reports that for the last 1-2 years or longer he has experie...
      • Case Study, continuedAndrew is a 49-year-old Caucasian male who is seen by a primary care doctor. He reports that for the last 1-2 years or longer he ...
      • Case Study, continuedAndrew is a 49-year-old Caucasian male who is seen by a primary care doctor. He reports that for the last 1-2 years or longer he ...
  • References
      • References

Additional Information

Level of instruction: Intermediate

Intended Audience: Clinical laboratory technologists and technicians, and other health care personnel who have an interest in this subject matter. This course is also appropriate for clinical laboratory science students and pathology residents.
 
Author Information: Rebecca J. Laudicina, PhD, MLS(ASCP)CM is Professor Emeritus in the Division of Clinical Laboratory Science at The University of North Carolina at Chapel Hill’s School of Medicine. She obtained a Master of Education and PhD in Educational Psychology from Temple University. She is the author of numerous publications including many in the field of hematology. 
  
Reviewer Credentials: Vicky LeGrys, DA, CLS(NCA), MT(ASCP) is a professor in the Division of Clinical Laboratory Science in the School of Medicine at the University of North Carolina Chapel Hill where she is responsible for the lecture and laboratory courses in Biochemistry, Clinical Chemistry, and Quality Assurance. She holds a Doctorate of Arts and a Master of Science in Medical Technology from Catholic University of America, Washington DC with a major in Clinical Chemistry.  
 
Course Description: This course offers an depth look at the condition, hemochromatosis. It begins with a discussion about normal iron metabolism and continues by explaining the pathophysiology of iron overload that occurs in the condition, hemochromatosis. Clinical considerations and laboratory testing are also discussed.

Hereditary Hemochromatosis Keywords

These are the most common topics and keywords covered in Hereditary Hemochromatosis:

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Iron Metabolism


Iron deposits, liver section stained with Prussian blue.  Courtesy of John Woosley, MD.


Sample Algorithm for HH