Hereditary Hemochromatosis Exam
Which of the following is NOT an expected or common laboratory finding in patients with HH?
Elevated hemoglobin and hematocrit Feedback Typical laboratory findings in HH include elevated transferrin saturation, elevated serum ferritin, and presence of an HFE mutation. Elevated hemoglobin and hematocrit are not typically associated with HH.
Which two substances listed below are considered iron storage compounds?
Hemosiderin Ferritin
Which HFE genotype is most common in patients with HH?
Homozygous for C282Y
Why might serum ferritin (SF) alone be considered a less than optimal screening test for HH?
It is frequently elevated in a variety of clinical conditions.
What is a typical finding for determining the endpoint for the initial or iron-depletion phase of treatment for HH?
The serum ferritin decreases to between <50 ng/mL
What is the pathophysiology (direct cause) of the iron overload in HH?
Absorption of excessive amounts of iron in the small intestine
Which factor offers a protective effect, delaying symptoms in persons with HH?
Regular blood donation Feedback Regular blood donation is thought to offer a protective effect, delaying symptoms in persons with HH. Pregnancy and menstruation could also delay symptoms.
What is a typical regimen for long-term maintenance therapy of individuals with HH?
Removal of 2 to 6 units of blood yearly
What is a common early symptom of HH?
Joint pain Feedback Joint pain is a common early symptom of HH. Cirrhosis of the liver, cardiomyopathy, and diabetes are late symptoms of HH.
In which age group is HH most likely to be initially detected based on clinical symptoms?
Middle-aged adults
Which statement best describes the relationship between dietary iron and iron absorption in a healthy individual?
Only a small percentage of dietary iron is absorbed and used. Feedback Due to iron recycling, only a small percentage of dietary iron is absorbed and used.
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?
Testing family members of persons with HH Feedback An appropriate use for molecular (DNA) tests for HFE mutations is testing family members of persons with HH. Newborn screening for HH is not recommended. The presence of HFE mutations does not detect or predict severity of iron overload. Molecular tests for HFE mutations is not used to select patients for treatment.
