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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -2 مورد

Diagnosis of hereditary hemochromatosis (HH)

Diagnosis of hereditary hemochromatosis (HH)
  • The diagnosis of HH is confirmed in an individual with iron overload and homozygosity for HFE C282Y. The need for phlebotomy depends on the presence of tissue iron deposition and the ferritin level (typically appropriate for ferritin >500 ng/mL [>1124 pmol/L]). Other testing may be indicated in certain cases (eg, screening for hepatocellular cancer in people with cirrhosis). Refer to UpToDate for details.
  • The diagnosis is excluded in an individual who lacks iron overload and is not homozygous for HFE C282Y.
  • For individuals with iron overload who lack homozygosity for HFE C282Y or individuals with homozygosity for HFE C282Y who lack iron overload, additional evaluations may be indicated (testing for other causes, serial monitoring).
  • Hematology consultation is appropriate for patients requiring phlebotomy or for those with laboratory results that require further interpretation.

BMI: body mass index; DNA: deoxyribonucleic acid; HH: hereditary hemochromatosis; TSAT: transferrin saturation.

* An individual may be suspected of having HH based on signs or symptoms of iron overload and/or a positive family history of HH. Signs and symptoms of HH include the following:
  • Unexplained liver disease
  • Unexplained fatigue
  • Unexplained heart failure or arrhythmia
  • Unexplained arthropathy
  • High serum ferritin or TSAT
  • Porphyria cutanea tarda (PCT)
  • Unexplained hypogonadism or low libido
  • Type 2 diabetes mellitus with atypical presentation (eg, younger age than average or low BMI)

¶ Some results may not be available.

  • Iron studies are appropriate in individuals with the signs and symptoms listed above, and in those with any mutation in HFE or other HH-associated gene. Iron studies may be repeated in those with initial results that are borderline or discordant (eg, high ferritin with low TSAT).
  • Some individuals may also have HFE genetic testing as part of the initial evaluation (eg, if they have known iron overload or a relative who is homozygous for HFE C282Y).

Δ For non-HFE hemochromatosis, DNA can be sent to an expert center for further testing. For acquired iron overload, refer to UpToDate for possible causes and evaluations to distinguish among them.

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