Question

3. A 45 year old Irish priest visited his doctor because he noticed a bronze discoloration on this arms and legs, along with fatigue and arthralgia. On physical exam, his liver was slightly enlarged, and his ALT and AST were elevated.

His glucose was 250 mg/dl (reference < 100 mg/dl). CBC is shown below. Patient result Reference range WBC 6.8 x10^9/L RBC 4.97 x 10 ^12/L Hemoglobin 14.2 g/dl HCT 44.8% MCV 89 fl MCH 26 pg 23 - 31 MCHC 34 g/dl 32-36 Platelet count 200 x 10^9/L IRON STUDY Serum iron 180 ug/dL 50 - 160 TIBC 27 ug/dL 250 - 400 Percent saturation of transferrin 65% 20 - 55 Ferritin 130 ng/ml 10 - 106

8. What is the most likely cause of the disorder? 9. What is the appropriate therapy? 10. What genetic testing should come next?

Answer 1