Hereditary hemochromatosis: pathophysiology, diagnosis, and management.
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease resulting in inappropriate intestinal iron absorption leading to iron overload and end-organ disease. The disease is most prevalent in white individuals of European descent. The C282Y mutation on the HFE gene accounts for most cases of HH; however, other genetic mutations have been identified. End-organ damage results in cirrhosis, diabetes mellitus, and cardiomyopathy. Therapeutic phlebotomy to deplete excessive iron stores is the standard treatment of HH and results in normal longevity if therapy is initiated before end-organ disease occurs.
Fowler
Christopher
C
Methodist Dallas Medical Center, Dallas, TX 75203, USA. christopher.fowler@sbcglobal.net
D003422:Critical Care / Q000379:methods; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D005828:Genetics, Population; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D015994:Incidence; D007501:Iron / Q000097:blood; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010353:Patient Education as Topic; D018962:Phlebotomy; D015995:Prevalence; D011379:Prognosis; D014168:Transferrin / Q000378:metabolism; D044465:White People / Q000235:genetics
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D007501:Iron