<<snip>>
high prevalence (38%) of serum ferritin >or= 300 microg/l must be
**emphasized**
<<snip>>
Rev Med Interne. 2004 Sep;25(9):623-8. Links
[Haemochromatosis screening in 120 patients complaining with
persistant fatigue][Article in French]
Vital Durand D, Francois S, Nove-Josserand R, Durupt S, Durieu I,
Morel Y, Rousset H.
Service de medecine interne, universite Lyon-I, centre hospitalier
Lyon Sud, 69495 Pierre-Benite cedex, France. denis.vital-durand@chu-
lyon.fr <[email hidden]>
AIM: Chronic fatigue is the more frequent symptom identified in the
course of hereditary haemochromatosis. A screening for this disorder
was carried out in 120 primary care patients consulting for
unexplained chronic fatigue. SUBJECTS AND METHODS: Transferrin
saturation and serum ferritin were determined in all patients. If
transferrin saturation was >or= 45% and serum ferritin >or= 300 microg/
l, HFE1 genotyping for mutations C282Y and H63D was completed.
RESULTS: One hundred and twenty patients were recruited, 19-86 years
old, including 62 males and 58 females. 45 patients (38%) presented
with serum ferritin >or= 300 microg/l. Thirty two patients (27%)
presented with transferrin saturation >or= 45%. Twenty two patients
(18%) presented with these two pathological values. Four C282Y/H63D
compound heterozygous, one H63D/H63D homozygous, and eight simplex
heterozygous (6 H63D and 2 C282Y) genotypes were found. Patients with
serum ferritin >or= 300 microg/l were predominantly male (89%), older
(57 year) and plethoric (BMI: 26.4) corresponding mainly to
dysmetabolic hyperferritinemia. CONCLUSION: None of these 120 patients
consulting for unexplained chronic fatigue was found with hereditary
haemochromatosis. Therefore observed prevalence is 0, with upper limit
of 95% confidence interval at 2.5%. But the high prevalence (38%) of
serum ferritin >or= 300 microg/l must be emphasized, corresponding
usually to dysmetabolic hyperferritinemia.
PMID: 15363617 [PubMed - indexed for MEDLINE]
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