Extra credit for BIOC 460 Final

1. Extra Credit Case Study
Emily Rada

2. Patient’s Condition
A male patient comes into the clinic complaining of a lack of energy
and abdominal pain. After doing an ultrasound on his abdomen, the
test showed that he had an enlarged liver and an enlarged spleen.
You couldn’t help but notice that his skin was an odd shade of
bronze.

3. What test would you order next
to determine a diagnosis?

4. What is an Iron Panel Test?
An iron panel test is a blood test which needs to run three tests in
order to come to the diagnosis. The panel test will test serum
ferritin, Total iron binding capacity, and serum iron.

5. Test results
The Iron blood test came back with results of over 45% Serum
transferrin saturation and elevated serum ferritin levels.

6. Diagnosis: Hemochromatosis
Hemochromatosis is characterized by elevated iron levels in the
body. The body is able to absorb 4 times more iron than normal,
however, it is unable to get rid of the excess iron. One out of 200-
300 people in the United States suffer from Hemochromatosis

7. Problem
With increased iron levels, the body tries to increase iron deposits
all over they body in joints, organs and skin.

8. Genetic Causes
C282Y, H63D, and S65C are the top three mutations on the HFE
gene. The HFE gene regulates iron levels in the body.
Hemochromatosis only occurs in people who have inherited the
mutated gene from both parents. People who only have one form of
the mutated gene, will only be a carrier.

9. Transferrin
Transferrin is a protein which binds to iron and
deposits it in cells to mediate iron uptake.
HFE protein associates with the transferrin
receptors and prevents the receiving cell from
absorbing transferring when still bound to iron.
If mutated, HFE is unable to facilitate this process
due to the changed folding conformation.

10. Treatment
• Low iron diet
• Blood donation multiple times a month
(this type of blood donation requires a prescription form a doctor)

11. References
• Bridges, MD Kenneth R. "Effects of Hemochromatosis." Effects of
Hemochromatosis. N.p., n.d. Web. 15 Dec. 2016.
• "Hemochromatosis." American Diabetes Association. N.p., n.d.
Web. 15 Dec. 2016.
• Mayo Clinic Staff Print. "Hemochromatosis." Treatment -
Hemochromatosis - Mayo Clinic. N.p., 22 Dec. 2015. Web. 15
Dec. 2016.
• "Welcome." Hemochromatosis.org - An Education Website for
Hemochromatosis and Too Much Iron. N.p., n.d. Web. 15 Dec.
2016.