Living with hemochromatosis
in Health ·
Bryan Barnes2 said:What does her CBC look like, and what are her liver enzyme levels? Is she experiencing any specific symptoms? (There are several other data points that might be relevant here.)
Since hereditary hemochromatosis is something one is born with—it isn't an overnight development—I don't quite see the urgency in rushing things before a two-month follow-up. If the numbers remain unchanged then, you can certainly press the physician for more intensive diagnostics.
Even if the diagnosis holds true—which is statistically unlikely, though entirely possible—she is 76 years old!
However, if you choose to insist—which is your prerogative—there are private laboratories that offer genetic testing for the HFE mutation (for instance, this link—the test costs approximately $227).
Thanks for the reply—we went ahead with private testing and the results just came back.
C282Y: wild type, H63D: HETEROZYGOTE
Method: PCR-RFLP, RsaI digestion (C282Y), BclI digestion (H63D), lab-on-a-
chip electrophoresis
Can someone please explain what these results mean?
What’s the next step? More blood draws? Which specialist should we be seeing now?