| Two copies of C282Y, likely affected by hemochromatosis which may be serious if male or post-menopausal. |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
5.1
|
Two copies of C282Y, likely affected by hemochromatosis which may be serious if male or post-menopausal.
|
| (A;G)
|
3
|
One copy of C282Y, carrier of hemochromatosis, likely unaffected unless also H63D carrier.
|
| (G;G)
|
0
|
Not a C282Y hemochromatosis carrier.
|
This rare genotype causes hereditary hemochromatosis. This can result in serious iron overload in males or post-menopausal females, but is easily treated.
This ACMG report recommends 4 clinical actions for those carrying two C282Y copies:
- Serum ferritin concentrations should be measured to establish disease status and prognosis.
- MRI to estimate parenchymal iron content, including the liver and possibly the heart
- When serum ferritin and liver enzyme levels are abnormal, liver biopsy can establish or exclude cirrhosis.
- Consultation with a medical geneticist and/or genetic counselor.
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this reddit thread may be useful
