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Clinical Review

Diagnosis and management of hereditary haemochromatosis

BMJ 2011; 342 doi: (Published 19 January 2011) Cite this as: BMJ 2011;342:c7251

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Hereditary hemochromatosis and diagnostics

The studies about hereditary hemochromatosis at the beginning of the
century (Asberg A et al. Screening for hemochromatosis. Scand J
Gastroenterol 2001) in an unselected population of 65,238 persons showed
high prevalence and low morbidity. The most cases presented C282Y mutation
in HFE gene at chromosome 6, which results in impaired function of the
HFE protein and excessive iron absorption.

HFE mutations are not completely penetrant and almost 50% of homozygotes
aged > 40 years have the full picture of the disease.
The study in St Olav's Hospital (Trondheim) three years ago, showed
a comparison between 404 Parkinson's disease patients and 505 healthy
Norwegians. C282Y,H63D and S65C mutations were screened. The frequency of
the C282Y mutation was 0.077 for the PD group and 0.078 for the healthy
population. These figures were similar to a screening study (Thorstensen K) in the same area describing 3,052 persons with a frequency of 0.081 for
this mutation. The genotype distributions were near to the Hardy-Weinberg

The hypothesis described in the study related HFE gene mutations and
systemic iron overload and incresed risk of developing atypical
Parkinson's disease or non-PD movement disorders (neuroferritinopathy and
aceruloplasminemia-like pictures). On the other hand, 14 patients with
hemocromatosis underwent imaging diagnosis and histologic studies,
showing iron deposition in basal ganglia but with absence of rigid-akinetic signs.

The normal levels of ferritin/transferrin and the constant level of
transferrin saturation with age progression in the population-centered
study, suggested unknown mechanisms in iron accumulation in the basal
The description of F.Walker considering hereditary hemochromatosis
expression , assumed Schrier SL figures showing 28 % of men and 1-2 % of
women developing manifestations of the disease during a 12-year follow-up. The importance of C282Y mutation has been yielded as intracellular
effect that is implied in the genesis and progress of Huntington's disease, considering age of onset.


-Asberg A , Hveen K , Thorstensen K et al.Screening for
hemochromatosis : high prevalence and low morbidity in an unselected
population of 65,238 persons.Scand J Gastroenterol 2001 ; 36: 1108-15

-Walker F. Does HH influence the age of onset of Huntington`s disease?
Mov Disord 2010 ; 25: 946-960

Competing interests: No competing interests

27 January 2011
Sabino G Echebarria Mendieta
MD neurologist.H San Eloy ( Barakaldo-Bizkaia ) district clinics.Osakidetza-Basque Health Service
Osakidetza-Basque Health Service