Hemochromatosis

Alethea Y. Turner, DO and Bradley Holman Glenn, MD Reviewed 06/2020

BASICS

DESCRIPTION

Hereditary hemochromatosis (HHC) is a common genetic disease with autosomal recessive inheritance that results in iron overload and subsequent deposition into various tissues.

HHC in...

DIAGNOSIS

HISTORY

Fatigue
Weakness
Arthralgias
Abdominal pain
Loss of libido or impotency
Symptoms of diabetes
Skin pigmentation or blistering
Dyspnea on exertion

PHYSICAL EXAM

Hepatomegaly and/or splenomegaly
I...

TREATMENT

GENERAL MEASURES

Due to a lack in evidence-based data, there is debate regarding when treatment should be initiated (particularly in asymptomatic patients), what the target serum indices, and...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

Measure hematocrit before each phlebotomy; skip phlebotomy if hemoglobin is <11 g/dL (2).
In the initial phases of treatment, check SF every 3...

REFERENCES

Buzzetti E, Kalafateli M, Thorburn D, et al. Interventions for hereditary haemochromatosis: an attempted network meta-analysis. Cochrane Database Syst Rev. 2017;(3):CD011647.

Powell ...

ADDITIONAL READING

U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006;145(3):204–208.

CODES

ICD10

E83.110 Hereditary hemochromatosis
E83.118 Other hemochromatosis
E83.111 Hemochromatosis due to repeated red blood cell transfusions
E83.119 Hemochromatosis, unspecified

ICD9

275.01 Hereditary h...

CLINICAL PEARLS

Types 1 to 3 involve a deficiency in an iron-regulating hormone (hepcidin), which causes increased intestinal absorption of iron.
Type 4 is caused by an insensitivity of ferroportin to ...

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