Hereditary Hemochromatosis (Online Course)
Author: Rebecca J. Laudicina, PhD, CLS(NCA), MT(ASCP)
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
- P.A.C.E.® Contact Hours: 2 hour(s)
- Florida Board of Clinical Laboratory Science CE - General (Hematology): 2 hour(s)
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.
Course Outline
Click on a link in the outline to view a sample page from this course.
- Introduction
- Normal Iron Metabolism
- Overview
- Storage Iron
- Iron Intake and Recycling
- Regulation of Iron Equilibrium
- Regulation of Iron Equilibrium
- Which of the following is NOT considered to be an important protein regulator of iron metabolism?
- What would you predict is the effect on iron absorption if erythopoietic activity is increased over a prolonged period of time?
- Iron Transport
- Iron Transport
- What is the protein that carries iron in the blood plasma?
- Pathophysiology of Iron Overload in HH
- Altered Iron Absorption
- Altered Iron Absorption
- What is the fundamental defect involving iron metabolism in hereditary hemochromatosis (HH)?
- Development of Iron Overload
- Development of Iron Overload
- Which factors may contribute to the age at which iron overload develops in patients with hereditary hemochromatosis?
- HFE Gene
- HFE and Other Genes
- Mutations in which gene account for the majority of cases of hereditary hemochromatosis (HH)?
- Mutations Associated with HH
- HFE Mutations
- Specific HFE Mutations
- How is the function of HFE protein altered in the C282Y mutation?
- Which of the following does NOT represent an HFE mutation?
- Epidemiology
- Epidemiology of HFE Mutations
- Which genotype accounts for the greatest percentage of cases of hereditary hemochromatosis (HH)?
- Incomplete Penetrance
- Incomplete Penetrance
- How is the issue of penetrance of HFE mutations currently viewed?
- HFE Polymorphism Prevalence
- Prevalence of HFE
- What percentage of Caucasians in the United States carry at least one C282Y mutation?
- Non-HFE Mutations
- Non-HFE Mutations
- How do the frequency of HFE mutations and non-HFE mutations compare as a cause of hereditary hemochromatosis (HH) in the US population?
- Clinical Considerations
- General
- General Clinical Considerations
- Which of the following does NOT contribute to the under-diagnosis of hereditary hemochromatosis (HH)?
- Signs and Symptoms
- Signs and Symptoms of HH
- Which of the following characterizes the early signs and symptoms of hereditary hemochromatosis (HH)?
- Other Conditions of Iron Overload
- Secondary Disorders of Iron Overload
- Which of the following is NOT considered to be a cause of secondary iron overload?
- Diagnosis of HH
- Diagnosing HH
- Which of the following is (are) needed for a diagnosis of hereditary hemochromatosis (HH)?
- Prognosis and Mortality
- Prognosis and Mortality
- What is the major determinant of prognosis for patients with hereditary hemochromatosis (HH)?
- Laboratory Testing for HH
- General Overview of Testing
- Which laboratory assay is considered to be a confirmatory test for hereditary hemochromatosis (HH)?
- Serum Iron
- Serum Iron
- What laboratory test reflects circulating iron that is bound to transferrin?
- Transferrin and Total Iron Binding Capacity
- Transferrin and Total Iron Binding Capacity
- What would you expect the serum iron (SI) and total iron binding capacity (TIBC) to be in a person with hereditary hemochromatosis (HH)?
- Transferrin Saturation
- Transferrin Saturation
- What is the transferrin saturation (TS) for a person with a serum iron of 200 micrograms/dL and a TIBC of 250 micrograms/dL?
- What is the American College of Physicians' recommended criterion level for transferrin saturation when testing for hereditary hemochromatosis (HH)?
- Serum Ferritin
- Serum Ferritin
- Why is serum ferritin (SF) a less than optimal screening test for hereditary hemochromatosis (HH)?
- Unsaturated Iron-Binding Capacity
- UIBC
- How would you interpret the result of a UIBC test that is less than the lower limit of the reference interval?
- Controversies in Screening
- Screening Controversies
- What is one established reason supporting general population screening for hereditary hemochromatosis (HH)?
- Confirmatory Tests for HH
- Molecular Tests for Genetic Mutations
- Molecular Tests
- Which of the following does NOT apply to the use of molecular assays in testing for hereditary hemochromatosis (HH)?
- Definitive Tests for Iron Overload
- Definitive Tests for Iron Overload
- Which statement best describes the use of the liver biopsy in suspected cases of hereditary hemochromatosis (HH)?
- Quantitative Phlebotomy
- Treatment and Management of HH
- Rationale for Treatment
- Rationale for Treatment
- Which of the following is NOT a cause of death in patients with hereditary hemochromatosis (HH)?
- Initial Treatment
- Initial Treatment
- What is a typical schedule for phlebotomy during the initial treatment phase for hereditary hemochromatosis (HH)?
- Maintenance Therapy
- Maintenance Therapy
- How long should therapy continue for patients with hereditary hemochromatosis (HH)?
- Other Treatment Considerations
- Other Treatments
- What drug may be used to decrease iron levels in patients with iron overload?
- 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, CLS(NCA), MT(ASCP) is a professor 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.
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