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rs1800562(A;A)

From SNPedia

Two copies of C282Y, likely affected by hemochromatosis which may be serious if male or post-menopausal.
Is agenotype
ofrs1800562
GeneHFE
Chromosome6
Position26,092,913
mentionedby
Magnitude5.1
ReputeBad
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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