LabCE Course - Hereditary Hemochromatosis

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Increased

Decreased levels of hepcidin are related to __________ iron absorption into the bloodstream

Middle-aged adults

In which age group is HH most likely to be initially detected based on clinical symptoms

Remove 2-6 blood units yearly

typical regimen for long-term maintenance therapy of individuals with HH

Inherited iron overload

HH is the most common cause of which of the following conditions

Its binding with beta-2 microglobulin is decreased and it remains within the cell's Golgi apparatus

How is the function of HFE protein altered in the C282Y mutation

Therapy should continue throughout the lifetime

How long should therapy continue for patients with HH

HFE

Mutations in which gene account for the majority of cases of HH

He had a brother who died of liver disease and parents with diabetes

What about this patient's medical and family histories suggests that he might have HH

Deferoxamine

What drug may be used to decrease iron levels in patients with iron overload

Joint pain

What is a common early symptom of HH

Ferritin

What is a mobilizable, water-soluble form of storage iron that is bound to protein

The serum ferritin decreases to between 20 and 50 ng/mL

What is a typical finding for determining the endpoint for the initial or iron-depletion phase of treatment for HH

Removing one unit (450 mL) of whole blood once or twice weekly

What is a typical schedule for phlebotomy during the initial treatment phase for HH

Testing family members of persons with HH

What is an appropriate use for molecular (DNA) tests for mutations of the HFE gene, the gene found in the majority of patients diagnosed with HH

Excessive dietary iron is absorbed

What is the fundamental defect involving iron metabolism in HH

Degree of organ damage from iron overload

What is the major determinant of prognosis for patients with HH

Absorption of excessive amounts of iron in the small intestine

What is the pathophysiology (direct cause) of the iron overload in HH

Transferrin

What is the protein that carries iron in the blood plasma

Serum iron

What laboratory test reflects circulating iron that is bound to transferrin

5-15%

What percentage of dietary iron is normally absorbed daily

Low

What unsaturated iron binding capacity (UIBC) result is consistent with a diagnosis of HH

Increased SI and normal to decreased TIBC

What would you expect the serum iron (SI) and total iron binding capacity (TIBC) to be in a person with HH

Homozygous for C282Y

Which HFE genotype is most common in patients with HH

Hemoglobin

Which compound normally contains the majority of the body's total iron

C282Y/C282Y

Which genotype accounts for the greatest percentage of cases of HH

Molecular (DNA) assays for HFE mutations

Which laboratory assay is considered to be a confirmatory test for HH

Iron overload as identified through laboratory analyses for iron Presence of HFE mutations or other genetic mutations associated with iron metabolism Clinical signs and symptoms consistent with HH

Which of the following are needed for a diagnosis of HH

Vague, nonspecific, and variable

Which of the following characterizes the early signs and symptoms of HH

Elevated hemoglobin and hematocrit

Which of the following is NOT an expected or common laboratory finding in patients with HH

Only a small percentage of dietary iron is absorbed and used

Which statement best describes the relationship between dietary iron and iron absorption in a healthy individual

It can detect both liver fibrosis and assess the amount of iron in the liver

Which statement best describes the use of the liver biopsy in suspected cases of HH

It lacks specificity because ferritin is increased in inflammation

Why is serum ferritin (SF) a less than optimal screening test for HH

It is frequently elevated in a variety of clinical conditions

Why might serum ferritin (SF) alone be considered a less than optimal screening test for HH

Hemosiderin Ferritin

iron storage compounds

Regular blood donation

protective effect delaying symptoms in a person with HH


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