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Clinical Review

Diagnosis and management of hereditary haemochromatosis

BMJ 2011; 342 doi: https://doi.org/10.1136/bmj.c7251 (Published 19 January 2011) Cite this as: BMJ 2011;342:c7251

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A normal serum ferritin does not exclude haemochomatosis

Dear Sir

We read with interest the clinical review article on the diagnosis of
hereditary haemochomatosis (1). In this article van Bokhoven and
colleagues suggest that a normal serum ferritin excludes the diagnosis of
haemochromatosis. Although serum ferritin does become elevated as the
disease progresses, in the early stages serum ferrtin can be normal. An
elevated transferrin saturation (>45%) is the earliest biochemical
parameter to be increased in this disease. Therefore transferrin
saturation should be the first test requested when haemochromatosis is
suspected (2). An elevated transferrin saturation should be followed by
genetic testing to confirm the diagnosis. If the diagnosis is confirmed
serum ferritin helps quantify the degree of iron overload and high levels
accurately predict hepatic cirrhosis. This is an important point and
clinicians should note that in early disease, a normal serum ferritin does
not exclude the diagnosis of haemochromatosis.

1) van Bokhoven MA et al. Diagnosis and management of hereditary
haemochromatosis. BMJ 2011;342:28-223

2)Brissott P, de Bels F. Current approaches to the management of
haemochromatosis. Hematology Am Soc Hematol Educ Program. 2006:36-41

Competing interests: No competing interests

27 January 2011
Abbas A Ismail
Consultant Rheumatologist
Roshan Amarasena
Stockport NHS Foundation Trust