[Haemochromatosis screening in 120 patients complaining with persistant fatigue].
OBJECTIVE
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.


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.


CONCLUSIONS
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.
Vital Durand
D
D
Service de médecine interne, université Lyon-I, centre hospitalier Lyon Sud, 69495 Pierre-Bénite cedex, France. denis.vital-durand@chu-lyon.fr <denis.vital-durand@chu-lyon.fr>
François
S
S
Nové-Josserand
R
R
Durupt
S
S
Durieu
I
I
Morel
Y
Y
Rousset
H
H
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001247:Asthenia / Q000209:etiology; D015992:Body Mass Index; D016009:Chi-Square Distribution; D002908:Chronic Disease; D016001:Confidence Intervals; D005221:Fatigue / Q000209:etiology*; D005260:Female; D005293:Ferritins / Q000097:blood; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012737:Sex Factors; D014168:Transferrin / Q000032:analysis
D014168:Transferrin; D005293:Ferritins