CONCLUSION
Hemochromatosis can be detected incidentally by routine examination and
blood analysis, and its diagnosis can be made easily by mutation
analysis. Today, C282Y and H63D mutations are detected in whole blood by
polymerase chain reaction (PCR). Accumulation of iron in the body and
detection of homozygous C282Y mutation is sufficient for the diagnosis
of the disease. C282Y homozygosity is the most common mutation
for hemochromatosis and proceeds with maximum iron accumulation. While
the patients with both C282Y/H63D heterozygosity show moderate
iron accumulation, H63D homozygotes , and
C282Y heterozygotes are usually normal.