title: Patients with biochemical iron overload: causes and characteristics of a cohort of 150 cases.
abstract: Biochemical iron overload (IO) is a frequent metabolic abnormality. It may be caused by several diseases, and data regarding the relative frequency of these are scant. A single diagnostic protocol including clinical, biochemical, and genetic data was used to diagnose the cause of biochemical IO in a group of 150 patients referred by general practitioners. Severe alterations of the HFE gene (42 patients, 28%), hepatitis C virus infection (33 patients, 22%), and dysmetabolic syndrome with iron overload (DSIO) (22 patients, 15%) emerged as the main causes, and other single causes were found in 20 patients (13%). In 19 patients (13%), multiple causes of IO were found, and in 14 patients no cause was found, 5 of whom had classical criteria of genetic hemochromatosis (GH) without HFE mutations. Transferrin saturation index (TSI) had a very low positive predictive value (0.16) for GH among patients with biochemical IO in this setting. In conclusion, 90% of patients with biochemical IO were diagnosed with a specific disorder. GH, hepatitis C infection, and DSIO were the major causes, and a large group of patients had multiple causes of IO. TSI is not a useful indicator of GH in patients referred by general practitioners.
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain. aaltesh@hsp.santpau.es.
authors.forename: A
authors.initials: A
authors.lastname: Altes
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: A F
authors.initials: AF
authors.lastname: Remacha
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Sureda
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Martino
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Briones
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Brunet
authors.affiliation: Genetic Service. Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.affiliation: Hematology Department, Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona, Sant Antoni Mª Claret 167, 08025 , Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Sierra
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D015994:Incidence; D019189:Iron Metabolism Disorders / Q000150:complications; D019190:Iron Overload / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D014168:Transferrin / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin