Summary and Conclusions

HH is a common disorder that is increasingly being recognized in clinical practice. The quality of diagnosis has been improved with the use of genetic testing that has come about since the gene for hemochromatosis was discovered in 1996. Over the last few years, we have learned that approximately 50% of patients who are C282Y homozygotes may not have evidence of phenotypic expression. Also, many other patients will have mild degrees of iron overload. Because iron overload is so easy to treat, it makes sense to use phlebotomy as definitive therapy for patients even if they have mild degrees of iron loading. The use of genetic testing (HFE mutation analysis) has superseded the use of HLA-typing in the performance of family studies once a proband was identified, and its use in population surveys is still being debated. Finally, the reasons for the differences in phenotypic expression in patients who are genotypically identical (C282Y homozygotes) probably relates to other genetic abnormalities identified in genes involved in cellular iron transport.

Constipation Prescription

Constipation Prescription

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