Diagnosis and Management of Hemochromatosis

Publication Date: March 1, 2011
Last Updated: March 14, 2022


Clinical Features

1. We recommend that patients with abnormal iron studies should be evaluated as patients with hemochromatosis, even in the absence of symptoms.

(, A)

2. All patients with evidence of liver disease should be evaluated for hemochromatosis.

( 1 – Strong , B)


3. In a patient with suggestive symptoms, physical findings, or family history, a combination of TS and ferritin should be obtained rather than relying on a single test.

( 1 – Strong , B)
If either is abnormal (TS ≥45% or ferritin above the upper limit of normal), then HFE mutation analysis should be performed. ( 1 – Strong , B)
4. Diagnostic strategies using serum iron markers should target high-risk groups such as those with a family history of HH or those with suspected organ involvement. ( 1 – Strong , B)

Family Screening

5. We recommend screening (iron studies and HFE mutation analysis) of first-degree relatives of patients with HFE-related HH to detect early disease and prevent complications. ( 1 – Strong , A)

Liver Biopsy

6. Liver biopsy is recommended to stage the degree of liver disease in C282Y homozygotes or compound heterozygotes if liver enzymes (ALT, AST) are elevated or if ferritin is >1000 μg/L. ( 1 – Strong , B)

Role of Liver Biopsy in Non–HFE-related HH

7. Liver biopsy is recommended for diagnosis and prognosis in patients with phenotypic markers of iron overload who are not C282Y homozygotes or compound heterozygotes. ( 2 – Weak , C)
8. We recommend that in patients with non–HFE-related HH, data on hepatic iron concentration is useful, along with histopathologic iron staining, to determine the degree and cellular distribution of iron loading present. ( 2 – Weak , C)

Treatment of Hemochromatosis

9. Patients with hemochromatosis and iron overload should undergo therapeutic phlebotomy weekly (as tolerated). ( 1 – Strong , B)
Target levels of phlebotomy should be a ferritin level of 50-100 μg/L.
10. In the absence of indicators suggestive of significant liver disease (ALT, AST elevation), C282Y homozygotes who have an elevated ferritin (but <1000 μg/L) should proceed to phlebotomy without a liver biopsy. ( 1 – Strong , B)
11. Patients with end-organ damage due to iron overload should undergo regular phlebotomy to the same endpoints as indicated above. ( 1 – Strong , A)
12. During treatment for HH, dietary adjustments are unnecessary. Vitamin C supplements and iron supplements should be avoided. ( 1 – Strong , C)
13. Patients with hemochromatosis and iron overload should be monitored for reaccumulation of iron and undergo maintenance phlebotomy. ( 1 – Strong , A)
Target levels of phlebotomy should be a ferritin level of 50-100 μg/L. ( 1 – Strong , B)
14. We recommend treatment by phlebotomy of patients with non-HFE iron overload who have an elevated hepatic iron concentration (HIC). ( 1 – Strong , B)

Treatment of Secondary Iron Overload

15. Iron chelation with either deferoxamine mesylate or deferasirox is recommended in iron overloaded patients with dyserythropoietic syndromes or chronic hemolytic anemia. ( 1 – Strong , A)

General Population Screening

16. Average risk population screening for HH is not recommended. ( 1 – Strong , B)

Recommendation Grading



Diagnosis and Management of Hemochromatosis

Authoring Organization

Publication Month/Year

March 1, 2011

Last Updated Month/Year

August 21, 2023

Supplemental Implementation Tools

Document Type


External Publication Status


Country of Publication


Document Objectives

These recommendations suggest preferred approaches to the diagnostic, therapeutic, and preventive aspects of care for hemochromatosis.


Target Patient Population

Patients with hemochromatosis

Inclusion Criteria

Female, Male, Adolescent, Adult, Older adult

Health Care Settings

Ambulatory, Hospital, Outpatient

Intended Users

Nurse, nurse practitioner, physician, physician assistant


Assessment and screening, Diagnosis, Prevention, Management, Treatment

Diseases/Conditions (MeSH)

D008107 - Liver Diseases, D005820 - Genetic Testing, D006432 - Hemochromatosis, D000071020 - Hemochromatosis Protein, D019190 - Iron Overload


iron, genetic, liver disease, hemochromatosis