Hemochromatosis Flashcards
1
Q
What is the inheritance pattern of hereditary hemochromatosis?
A
Autosomal recessive
2
Q
What are the commoners gene mutations in HH?
A
C282Y
H63D
3
Q
What is the relative risk of clinical HH of each gene mutation?
A
C282Y homozygous - high risk
H63D homozygous- unlikely to develop clinical HH
Heterozygous C282Y and H63D - mild form or HH
4
Q
What gene is mutated in HH?
A
HFE gene on short arm of chromosome 6
