E' una malattia dovuta alla deposizione di emosiderina nelle cellule parenchimali, che porta a danni e disfunzione di fegato, pancreas, cuore e ipofisi. Lo sviluppo completo della malattia nelle femmine e limitato dalla presenza delle perdite mestruali, la gravidanza e il basso introito di ferro con la dieta. L'emocromatosi idiopatica o genetica e una malattia metabolica autosomica recessiva associata ad un gene strettamente collegato al locus A del complesso HLA nel cromosoma 6. - Medline Thesaurus
L'emocromatosi giovanile e una rara malattia genetica di eziologia sconosciuta e si presenta con sintomi clinici prima dei 30 anni d'eta, ma anche durante l'infanzia. La modalita di trasmissione e autosomica recessiva e viene riportata frequentemente anche una consanguineita. Di solito non sono associate delle mutazioni HFE. L'eccesso di distribuzione di ferro nel fegato coinvolge soprattutto le cellule parenchimali, allo stesso modo che nell'emocromatosi ereditaria con mutazioni HFE. Il decorso clinico e severo. Di solito si presenta con ipogonadismo ipogonadotropo, aritmie cardiache ed insufficienza cardiaca. Se non trattata con flebotomie periodiche, puo portare a morte (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

Sono coinvolti principalmente il fegato, il pancreas, le ghiandole endocrine, la cute e le articolazioni. Possono essere presenti con piena espressione clinica: cirrosi, cardiomiopatia, diabete mellito, ipogonadismo, pigmentazione cutanea ed artrite.
I pazienti con emocromatosi ereditaria sono asintomatici finche vengono accumulate concentrazioni tossiche di ferro, un processo che di solito richiede decenni. A questo stadio, le concentrazioni di deposito di ferro nel fegato e nel pancreas sono da 50 a 100 volte il normale, nella tiroide 25 volte, nel cuore e nel surrene da 10 a 15 volte e nella cute, nella milza, nel rene e nello stomaco 5 volte il normale. Il ferro in eccesso e accumulato soprattutto nella forma di emosiderina ed e visibile all'esame istologico.
1. Cute. E' caratteristica della malattia la pigmentazione cutanea, anche se e un riscontro meno frequente al giorno d'oggi. E' presente in modo esteso soprattutto nelle aree esposte, nei genitali esterni, nell'areola del capezzolo, nelle pieghe e nelle cicatrici e, a volte, nella congiuntiva, nei margini palpebrali e nella mucosa orale. La cute e sottile e la peluria soffice e scarsa nel viso, nel pube e nelle ascelle.
2. Fegato. Una volta che la concentrazione di ferro di deposito raggiunge il 2,2 per cento del peso secco del fegato, puo evidenziarsi una fibrosi portale e periportale di grado lieve-moderato. A concentrazioni maggiori, puo manifestarsi cirrosi. Una complicanza tardiva importante e l'epatoma; la sua frequenza e 200 volte maggiore rispetto alla popolazione generale.
3. Milza. Il peso medio della milza e maggiore del normale, dell'ordine di 400 grammi.
4. Diabete. Nel pancreas si ritrovano depositi estesi di emosiderina e la fibrosi e quasi costante. Il diabete rappresenta una manifestazione tardiva dell'emocromatosi. La prevalenza nei soggetti sintomatici e del 30-60 per cento. Comunque, in assenza di diabete o di cirrosi, puo essere dimostrabile una intolleranza al glucosio, dovuta ad un'insufficiente secrezione di insulina, reversibile al trattamento con flebotomie. Quando il diabete e presente, e spesso associato a cirrosi.
5. Ipogonadismo. E' spesso presente una diminuita funzione sessuale. Comunemente si riscontrano una diminuzione della libido, atrofia testicolare, impotenza, amenorrea e peli del corpo radi.
6. Cuore. Nei soggetto giovani le manifestazioni cardiache sono frequentemente le caratteristiche di presentazione e quasi sempre la causa di morte, che viene dopo un anno dalla diagnosi in mancanza di un trattamento di rimozione del ferro in eccesso. L'esordio puo essere acuto, con lo sviluppo di insufficienza cardiaca in pochi giorni, la congestione polmonare e l'edema periferico possono essere molto severi. Negli individui anziani la presentazione e spesso piu graduale; puo essere presente una malattia ischemica cardiaca. In piu che un terzo dei casi non trattati si sviluppano aritmie od insufficienza cardiaca; l'eta media d'esordio e 56 anni.
7. Articolazioni. L'artropatia e presente nel 40-85 per cento dei soggetti ed e spesso la caratteristica di presentazione. Non e proporzionale alla quantita di ferro o alla presenza di cirrosi. E' presente condrocalcinosi in circa meta dei casi, di solito asintomatici, ma in alcuni soggetti si hanno attacchi di sinovite infiammatoria acuta (pseudogotta).
8. Osteoporosi.
9. Dolore addominale ed infezioni. In particolare i soggetti cirrotici possono presentare dolore cronico all'epigastrio o all'epicondrio destro. Puo avere molte cause, incluso l'ulcera peptica, epatoma, sanguinamento delle varici, ascite, colecistite e nefrolitiasi.
(C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

I pazienti con emocromatosi ereditaria di solito accumulano ferro finche i depositi corporei raggiungono i 15-40 grammi, da 5 a 10 volte la quantita normale. L'accumulo di 20-40 grammi di ferro in eccedenza richiede molti anni. Percio, la maggior parte dei soggetti con emocromatosi ereditaria, al momento della diagnosi, hanno un'eta dai 40 ai 60 anni, anche se sono stati descritti anche pazienti piu giovani, inclusi alcuni giovani adulti e bambini (emocromatosi giovanile).
Se non trattata, puo portare a morte a causa della cirrosi, dell'epatoma, dell'insufficienza cardiaca, delle aritmie, di una grave infezione o di diabete.
La rimozione del ferro nell'emocromatosi ereditaria prolunga la sopravvivenza, cura la cardiomiopatia e la pigmentazione cutanea e arresta il danno epatico. Il diabete puo aumentare, ma non l'ipogonadismo e l'artropatia e l'epatoma puo complicare la cirrosi anche dopo anni (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

L'emocromatosi ereditaria e di solito la conseguenza delle mutazioni in un gene che e stato definito HFE, localizzato sul braccio corto del cromosoma 6; li difetto genico causa l'assorbimento di piu ferro di quanto necessario.
La natura del difetto metabolico causato dalla mutazione del gene HFE non e stata ancora spiegata. La proteina normale sembra legare il recettore della transferrina e cambiarne la sua affinita, ma il significato fisiologico di questa interazione non e stato ancora descritto pienamente. Sono state identificate tre mutazioni. Una di queste, la 845G-A (C282Y,845A), evita il formarsi di un legame disulfide essenziale per il legame alla beta2-microglobulina. Questo blocca il trasporto della proteina HFE sulla superficie cellulare. La mutazione 187C-G (H63D) sembra influenzare il legame dell'HFE al recettore della transferrina. Una terza mutazione, meno frequente, la 193A-T (S65C), e meno studiata e al momento di importanza sconosciuta (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

Quando si presenti un aumento della concentrazione del ferro nel plasma, della saturazione della transferrina, della concentrazione della ferritina sierica o una disfunzione epatica minore come l'aumento di ALT nel siero o un'epatomegalia inspiegata, la diagnosi di emocromatosi ereditaria deve essere tenuta in considerazione. Una volta diagnosticata, devono essere indagati anche i membri della famiglia del paziente, che possono esserne affetti. La classica triade del 'diabete bronzino' dato da pigmentazione, diabete e cirrosi e in realta raro ed oggi e visto solo in pazienti nei quali la diagnosi e tardiva. E' molto suggestivo per una diagnosi di emocromatosi ereditaria la presenza di un'elevata saturazione della transferrina. Diversi studi hanno confermato che i valori nelle femmine tendono ad essere piu bassi che nei maschi di eta confrontabile, la ragione principale e la perdita mestruale di ferro. L'associazione di concentrazione plasmatica di ferro, saturazione di transferrina, concentrazione sierica di ferritina porta a sospettare omozigosi. Una volta che un omozigote per emocromatosi ereditaria viene identificato, devono essere analizzati tutti i parenti di primo grado, soprattutto i fratelli.
La diagnosi differenziale di omozigosi per emocromatosi ereditaria richiede la considerazione di un accumulo di ferro secondario ad anemia cronica e malattia epatica alcolica con siderosi. Anche la sindrome iperferritinemia-cataratta rientra nella diagnosi differenziale quando c'e un aumento della ferritina sierica, anche se e una possibilita piu remota (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

La modalita che si e dimostrata piu utile per rimuovere il ferro nell'emocromatosi ereditaria e l'effettuazione di flebotomie settimanali di 400-500 ml di sangue. Queste devono essere continuate finche venga raggiunto uno stadio di deficit di ferro lieve. In seguito, una flebotomia ogni 3-4 mesi o meno frequentemente e sufficiente per prevenire il riaccumulo di ferro. Nelle anemie refrattarie il ferro puo essere eliminato solamente con la somministrazione di deferossamina, che viene infusa per piu di 10-12 ore ogni 24, di solito sottocute.
La perdita di libido puo essere trattata attraverso la somministrazione di androgeni. Il diabete, l'insufficienza epatica e quella cardiaca vengono trattate secondo le terapie convenzionali. In casi rari sono stati eseguiti il trapianto cardiaco e di fegato (C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition).

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Vautier-G; Olynyk-JK
Porphyria cutanea tarda in the HFE-gene and hepatitis C virus era
AMERICAN-JOURNAL-OF-GASTROENTEROLOGY. DEC 2000; 95 (12) : 3350-3352

Martinelli-ALC; Zago-MA; Roselino-AMF; Filho-AB; Villanova-MG; Secaf-M; Tavella-MH; Ramalho-LNZ; Zucoloto-S; Franco-RF
Porphyria cutanea tarda in Brazilian patients: Association with hemochromatosis C282Y mutation and hepatitis C virus infection
AMERICAN-JOURNAL-OF-GASTROENTEROLOGY. DEC 2000; 95 (12) : 3516-3521

Andrews-NC
Iron homeostasis: Insights from genetics and animal models
NATURE-REVIEWS-GENETICS. DEC 2000; 1 (3) : 208-217

Bulaj-ZJ; Franklin-MR; Phillips-JD; Miller-KL; Bergonia-HA; Ajioka-RS; Griffen-LM; Guinee-DJ; Edwards-CQ; Kushner-JP
Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda
JOURNAL-OF-LABORATORY-AND-CLINICAL-MEDICINE. DEC 2000; 136 (6) : 482-488

West-AP; Bennett-MJ; Sellers-VM; Andrews-NC; Enns-CA; Bjorkman-PJ
Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
JOURNAL-OF-BIOLOGICAL-CHEMISTRY. DEC 8 2000; 275 (49) : 38135-38138

Berent-R; Allinger-S; Hobling-W; Auer-J; Knoflach-P
Loss of libido and erectile dysfunction as initial symptoms of haemochromatosis in a 24-year-old man
DEUTSCHE-MEDIZINISCHE-WOCHENSCHRIFT. DEC 1 2000; 125 (48) : 1466-1468

Roy-CN; Enns-CA
Iron homeostasis: new tales from the crypt
BLOOD-. DEC 15 2000; 96 (13) : 4020-4027

Andrews-NC
Iron metabolism: Iron deficiency and iron overload
ANNUAL-REVIEW-OF-GENOMICS-AND-HUMAN-GENETICS. 2000; 1 : 75-98

Santos-MM; de-Sousa-M; Rademakers-LHPM; Clevers-H; Marx-JJM; Schilham-MW
Iron overload and heart fibrosis in mice deficient for both beta 2-microglobulin and Rag1
AMERICAN-JOURNAL-OF-PATHOLOGY. DEC 2000; 157 (6) : 1883-1892

Rossi-E; McQuillan-BM; Hung-J; Thompson-PL; Kuek-C; Beilby-JP
Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of asymptomatic carotid atherosclerosis in a community population
STROKE-. DEC 2000; 31 (12) : 3015-3020

Del-Rey-R; Froilan-C; Comas-C; Villanueva-R; Olveira-A
Hereditary hemochromatosis associated to low serum ceruloplasmin in patient without HFE gen mutations.
REVISTA-ESPANOLA-DE-ENFERMEDADES-DIGESTIVAS. SEP 2000; 92 (9) : 610-611

Beckman-LE; Hagerstrand-I; Stenling-R; Van-Landeghem-GF; Beckman-L
Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma
ONCOLOGY-. 2000; 59 (4) : 317-322

Ehrlich-R; Lemonnier-FA
HFE - A novel nonclassical class I molecule that is involved in iron metabolism
IMMUNITY-. NOV 2000; 13 (5) : 585-588

Stuart-KA; Fletcher-LM; Clouston-AD; Lynch-SV; Purdie-DM; Kerlin-P; Crawford-DHG
Increased hepatic iron and cirrhosis: No evidence for an adverse effect on patient outcome following liver transplantation
HEPATOLOGY-. DEC 2000; 32 (6) : 1200-1207

Keeffe-EB
Liver transplantation in patients with hepatic iron overload: Favorable or unfavorable outcome?
HEPATOLOGY-. DEC 2000; 32 (6) : 1396-1398

McCullen-MA; Crawford-DHG; Dimeski-G; Tate-J; Hickman-PE
Why there is discordance in reported decision thresholds for transferrin saturation when screening for hereditary hemochromatosis
HEPATOLOGY-. DEC 2000; 32 (6) : 1410-1411

Sham-RL; Raubertas-RF; Braggins-C; Cappuccio-J; Gallagher-M; Phatak-PD
Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles
BLOOD-. DEC 1 2000; 96 (12) : 3707-3711

Trinder-D; Macey-DJ; Olynyk-JK
The new iron age (Review)
INTERNATIONAL-JOURNAL-OF-MOLECULAR-MEDICINE. DEC 2000; 6 (6) : 607-612

Milman-N; Byg-KE; Ovesen-L
Iron status in Danes 1994 II: Prevalence of iron deficiency and iron overload in 1319 Danish women aged 40-70 years. Influence of blood donation, alcohol intake and iron supplementation
ANNALS-OF-HEMATOLOGY. NOV 2000; 79 (11) : 612-621

Hohler-T; Gerken-G
Genetic hemochromatosis - from molecular genetics to the clinical diagnosis
ZEITSCHRIFT-FUR-GASTROENTEROLOGIE. JUN 2000; 38 (6) : 509-515

Bartfay-WJ; Bartfay-E
Systemic oxygen-free radical production in iron-loaded mice
WESTERN-JOURNAL-OF-NURSING-RESEARCH. DEC 2000; 22 (8) : 927-935

Winklhofer-C; Steinhausen-C; Beck-E; Alvarez-Bruckmann-M; Kinzel-S; Ittel-TH; Nolte-E
Effect of iron status on the absorption, speciation and tissue distribution of aluminium in rats
NUCLEAR-INSTRUMENTS-AND-METHODS-IN-PHYSICS-RESEARCH-SECTION-B-BEAM-INTERACTIONS-WITH-MATERIALS-AND-ATOMS. OCT 2000; 172 : 920-924

Bulaj-ZJ; Ajioka-RS; Phillips-JD; LaSalle-BA; Jorde-LB; Griffen-LM; Edwards-CQ; Kushner-JP
Disease-related conditions in relatives of patients with hemochromatosis.
NEW-ENGLAND-JOURNAL-OF-MEDICINE. NOV 23 2000; 343 (21) : 1529-1535

Roy-CN; Carlson-EJ; Anderson-EL; Basava-A; Starnes-SM; Feder-JN; Enns-CA
Interactions of the ectodomain of HFE with the transferrin receptor are critical for iron homeostasis in cells
FEBS-LETTERS. NOV 10 2000; 484 (3) : 271-274

Burggraf-S; Olgemoller-B
Diagnosis of HFE polymorphism in German patients with hereditary hemochromatosis (one and two)
DEUTSCHE-MEDIZINISCHE-WOCHENSCHRIFT. NOV 3 2000; 125 (44) : 1346

Mensing-HJ
Diagnosis of HFE polymorphism in German patients with hereditary hemochromatosis (one and two) - Reply
DEUTSCHE-MEDIZINISCHE-WOCHENSCHRIFT. NOV 3 2000; 125 (44) : 1346-1347

Erhardt-E
Diagnosis of HFE polymorphism in German patients with hereditary hemochromatosis (one and two) - Reply
DEUTSCHE-MEDIZINISCHE-WOCHENSCHRIFT. NOV 3 2000; 125 (44) : 1347

Andrews-NC
Inherited iron overload disorders
CURRENT-OPINION-IN-PEDIATRICS. DEC 2000; 12 (6) : 596-602

Wylenzek-C; Engelmann-M; Holten-D; Van-Atta-R; Wood-M; Gathof-B
Evaluation of a nucleic acid-based cross-linking assay to screen for hereditary hemochromatosis in healthy blood donors
CLINICAL-CHEMISTRY. NOV 2000; 46 (11) : 1853-1855

Lal-P; Fernandes-H; Koneru-B; Albanese-E; Hameed-M
C282Y mutation and hepatic iron status in hepatitis C and cryptogenic cirrhosis
ARCHIVES-OF-PATHOLOGY-AND-LABORATORY-MEDICINE. NOV 2000; 124 (11) : 1632-1635

Hussain-SP; Raja-K; Amstad-PA; Sawyer-M; Trudel-LJ; Wogan-GN; Hofseth-LJ; Shields-PG; Billiar-TR; Trautwein-C; Hohler-T; Galle-PR; Phillips-DH; Markin-R; Marrogi-AJ; Harris-CC
Increased p53 mutation load in nontumorous human liver of Wilson disease and hemochromatosis: Oxyradical overload diseases
PROCEEDINGS-OF-THE-NATIONAL-ACADEMY-OF-SCIENCES-OF-THE-UNITED-STATES-OF-AMERICA. NOV 7 2000; 97 (23) : 12770-12775

Trent-RJ; Le-H; Yu-B; Young-G; Bowden-DK
DNA testing for haemochromatosis: Diagnostic, predictive and screening implications
PATHOLOGY-. NOV 2000; 32 (4) : 274-279

Demarquay-G; Setiey-A; Morel-Y; Trepo-C; Chazot-G; Broussolle-E
Clinical report of three patients with hereditary hemochromatosis and movement disorders
MOVEMENT-DISORDERS. NOV 2000; 15 (6) : 1204-1209

Brady-JJ; Jackson-HA; Roberts-AG; Morgan-RR; Whatley-SD; Rowlands-GL; Darby-C; Shudell-E; Watson-R; Paiker-J; Worwood-MW; Elder-GH
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda
JOURNAL-OF-INVESTIGATIVE-DERMATOLOGY. NOV 2000; 115 (5) : 868-874

Fargion-S; Valenti-L; Fracanzani-AL; Sampietro-M; Cappellini-MD; Scaccabarozzi-A; Soligo-D; Mariani-C; Fiorelli-G
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia
BLOOD-. NOV 15 2000; 96 (10) : 3653-3655

Ruiz-Arguelles-GJ; Garces-Eisele-J; Gelbart-T; Monroy-Barreto-M; Reyes-Nunez-V; Juarez-Morales-JL; Gonzalez-Garrido-MD; Ramirez-Cisneros-FJ; Gallegos-Antunez-D
Analysis of HFE-Codon 63/282 (H63D/C282Y) gene variants in Mexican mestizos: Blood donors and patients with hereditary hemochromatosis
ARCHIVES-OF-MEDICAL-RESEARCH. JUL-AUG 2000; 31 (4) : 422-424

Van-Vlierberghe-H; Messiaen-L; Hautekeete-M; De-Paepe-A; Elewaut-A
Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosis
ACTA-GASTRO-ENTEROLOGICA-BELGICA. JUL-SEP 2000; 63 (3) : 250-253

Huber-S; Voelkerding-KV
Molecular diagnosis of hereditary hemochromatosis
MOLECULAR-PATHOLOGY-PROTOCOLS. 2000; VOL 49 : 439-450

Mahon-NG; Coonar-AS; Jeffery-S; Coccolo-F; Akiyu-J; Zal-B; Houlston-R; Levin-GE; Baboonian-C; McKenna-WJ
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy
HEART-. NOV 2000; 84 (5) : 541-547

Griffiths-W; Cox-T
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism
HUMAN-MOLECULAR-GENETICS. OCT 2000; 9 (16) : 2377-2382

Mamotte-CD; Grzegurzko-D; Lopes-T; Sayer-D; van-Bockxmeer-F; Christiansen-F; Vasikaran-S
A G5569A HFE gene polymorphism that interferes in DNA tests for genetic haemochromatosis: Who needs to be re-tested?
CLINICAL-CHEMISTRY-AND-LABORATORY-MEDICINE. AUG 2000; 38 (8) : 795-797

Moalem-S; Percy-ME; Andrews-DF; Kruck-TP; Wong-S; Dalton-AJ; Mehta-P; Fedor-B; Warren-AC
Are hereditary hemochromatosis mutations involved in Alzheimer disease? (vol 93, pg 58, 2000)
AMERICAN-JOURNAL-OF-MEDICAL-GENETICS. NOV 13 2000; 95 (2) : 189

Margaglione-M; Di-Castelnuovo-A; Totaro-A; Iacoviello-L; Di-Minno-G
Risk of myocardial infarction in carriers of mutations in the hemochromatosis-associated gene
THROMBOSIS-AND-HAEMOSTASIS. OCT 2000; 84 (4) : 726-727

Williams-TM; Burns-F; Crisan-D; Dumler-JS; Fink-LM; Frank-TS; Greiner-T; Kant-JA; Matthias-Hagen-V; Sabatini-L
Goals and objectives for molecular pathology education in residency programs
JOURNAL-OF-MOLECULAR-DIAGNOSTICS. NOV 1999; 1 (1) : 5-15

Le-Gac-G; Mura-C; Raguenes-O; Mercier-AY; De-Braekeleer-M; Ferec-C
Nramp2 analysis in hemochromatosis probands
BLOOD-CELLS-MOLECULES-AND-DISEASES. AUG 2000; 26 (4) : 312-319

Brandhagen-DJ; Fairbanks-VF; Baldus-WP; Smith-CI; Kruckeberg-KE; Schaid-DJ; Thibodeau-SN
Prevalence and clinical significance of HFE gene mutations in patients with iron overload
AMERICAN-JOURNAL-OF-GASTROENTEROLOGY. OCT 2000; 95 (10) : 2910-2914

Fracanzani-AL; Borzio-M; Roncalli-M; Derenzini-M; Trere-D; Mattioli-M; Taioli-E; Fiorelli-G; Fargion-S
Can large cell change and high proliferative activity predict hepatocellular carcinoma in patients with hereditary hemochromatosis?
AMERICAN-JOURNAL-OF-GASTROENTEROLOGY. OCT 2000; 95 (10) : 2940-2945

Yamamoto-M; Nakajima-O
Animal models for X-linked sideroblastic anemia
INTERNATIONAL-JOURNAL-OF-HEMATOLOGY. AUG 2000; 72 (2) : 157-164

Rosmorduc-O; Poupon-R; Nion-I; Wendum-D; Feder-J; Bereziat-G; Hermelin-B
Differential HFE allele expression in hemochromatosis heterozygotes
GASTROENTEROLOGY-. OCT 2000; 119 (4) : 1075-1086

Press-RD
Detection of prevalent genetic alterations predisposing to hemochromatosis and other common human diseases
CLINICAL-CHEMISTRY. OCT 2000; 46 (10) : 1526-1528

Donohoe-GG; Laaksonen-M; Pulkki-K; Ronnemaa-T; Kairisto-V
Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex allele-specific PCR without fluorescent probes
CLINICAL-CHEMISTRY. OCT 2000; 46 (10) : 1540-1547

Dupradeau-FY; Altenberg-Greulich-B; Warin-R; Fuentes-V; Monti-JP; Rochette-J
A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development
BIOCHIMICA-ET-BIOPHYSICA-ACTA-PROTEIN-STRUCTURE-AND-MOLECULAR-ENZYMOLOGY. SEP 29 2000; 1481 (2) : 213-221

Walker-EM; Walker-SM
Review: Effects of iron overload on the immune system
ANNALS-OF-CLINICAL-AND-LABORATORY-SCIENCE. OCT 2000; 30 (4) : 354-365

Barton-JC; Bottomley-SS
Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis
AMERICAN-JOURNAL-OF-HEMATOLOGY. NOV 2000; 65 (3) : 223-226

Adams-PC
Nonexpressing homozygotes for C282Y hemochromatosis: Minority or majority of cases?
MOLECULAR-GENETICS-AND-METABOLISM. SEP-OCT 2000; 71 (1-2) : 81-86

Marziliano-N; Bevilacqua-E; Pirulli-D; Spano-A; Amoroso-A; Crovella-S
Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D
HAEMATOLOGICA-. SEP 2000; 85 (9) : 990-991

Dubois-Laforgue-D; Larger-E; Timsit-J
Is diabetes mellitus a sufficient condition to suspect hemochromatosis?
DIABETES-AND-METABOLISM. SEP 2000; 26 (4) : 318-321

Prows-CA
Hereditary hemochromatosis
NURSING-CLINICS-OF-NORTH-AMERICA. SEP 2000; 35 (3) : 707-717,VIII

Distante-S; Berg-JP; Lande-K; Haug-E; Bell-H
HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis
GUT-. OCT 2000; 47 (4) : 575-579

Kohan-A; Niborski-R; Daruich-J; Rey-J; Bastos-F; Amerise-G; Herrera-R; Garcia-M; Olivera-W; Santarelli-MT; Avalos-JS; Findor-J
Enythrocytapheresis with recombinant human erythropoietin in hereditary hemochromatosis therapy: A new alternative
VOX-SANGUINIS. 2000; 79 (1) : 40-45

Griffiths-WJH; Kelly-AL; Smith-SJ; Cox-TM
Localization of iron transport and regulatory proteins in human cells
QJM-MONTHLY-JOURNAL-OF-THE-ASSOCIATION-OF-PHYSICIANS. SEP 2000; 93 (9) : 575-587

Ramrakhiani-S; Bacon-BR
The new millennium - Advances in viral hepatitis, hepatic disorders, and liver transplantation
MEDICAL-CLINICS-OF-NORTH-AMERICA. SEP 2000; 84 (5) : 1085-1105,VII

Cunningham-Rundles-S; Giardina-PJ; Grady-RW; Califano-C; McKenzie-P; De-Sousa-M
Effect of transfusional iron overload on immune response
JOURNAL-OF-INFECTIOUS-DISEASES. SEP 2000; 182 Suppl. 1 : S115-S121

Vercesi-E; Cerani-P; Rolandi-V; Rovati-A; Bergamaschi-G
Abnormal regulation of HFE mRNA expression may not contribute to primary iron overload
HAEMATOLOGICA-. AUG 2000; 85 (8) : 787-791

Remacha-AF; Carrasco-M; Sarda-MP; Barcelo-MJ; Blesa-I; Baiget-M
Screening for iron overload and HFE mutations in a university hospital
HAEMATOLOGICA-. AUG 2000; 85 (8) : 873-874

Niederau-C
Iron overload and atherosclerosis
HEPATOLOGY-. SEP 2000; 32 (3) : 672-674

Piperno-A; Arosio-C; Fossati-L; Vigano-M; Trombini-P; Vergani-A; Mancia-G
Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
GASTROENTEROLOGY-. AUG 2000; 119 (2) : 441-445

Guix-P; Picornell-A; Parera-M; Tomas-C; Muncunill-J; Castro-JA; Rossell-J; Vaquer-P; Ramon-MM; Obrador-A
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca
CLINICAL-GENETICS. AUG 2000; 58 (2) : 123-128

Beutler-E; Felitti-V; Gelbart-T; Ho-N
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
ANNALS-OF-INTERNAL-MEDICINE. SEP 5 2000; 133 (5) : 329-337

Adams-P; Brissot-P; Powell-L
EASL International Consensus Conference on Haemochromatosis - Part II. Expert document
JOURNAL-OF-HEPATOLOGY. SEP 2000; 33 (3) : 487-496

EASL International Consensus Conference on Haemochromatosis - Part III. Jury document
JOURNAL-OF-HEPATOLOGY. SEP 2000; 33 (3) : 496-504

Tallkvist-J; Bowlus-CL; Lonnerdal-B
Functional and molecular responses of human intestinal Caco-2 cells to iron treatment
AMERICAN-JOURNAL-OF-CLINICAL-NUTRITION. SEP 2000; 72 (3) : 770-775

Pelaez-JMF; Martin-SE; Miranda-RT; Martinez-NA; Sanz-AA
Hemochromatosis and hilar cholangiocarcinoma: description of a case
REVISTA-ESPANOLA-DE-ENFERMEDADES-DIGESTIVAS. JUL 2000; 92 (7) : 474-475

Beutler-E; Gelbart-T
A common intron 3 mutation (IVS3-48c -> g) leads to misdiagnosis of the c.845G -> A (C282Y) HFE gene mutation
BLOOD-CELLS-MOLECULES-AND-DISEASES. JUN 2000; 26 (3) : 229-233

Phillips-M; Meadows-CA; Huang-MY; Millson-A; Lyon-E
Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes
MOLECULAR-DIAGNOSIS. JUN 2000; 5 (2) : 107-116

Beutler-E
Introduction - Hemochromatosis population screening
GENETIC-TESTING. SUM 2000; 4 (2) : 95-96

Dooley-JS; Walker-AP
Genetic hemochromatosis: Detection, management, and population screening
GENETIC-TESTING. SUM 2000; 4 (2) : 97-101

Barton-JC; Bertoli-LF; Rothenberg-BE
Screening for hemochromatosis in routine medical care: An evaluation of mean corpuscular volume and mean corpuscular hemoglobin
GENETIC-TESTING. SUM 2000; 4 (2) : 103-110

Guttridge-MG; Carter-K; Worwood-M; Darke-C
Population screening for hemochromatosis by PCR using sequence-specific primers
GENETIC-TESTING. SUM 2000; 4 (2) : 111-114

Pointon-JJ; Merryweather-Clarke-AT; Carella-M; Robson-KJH
Detection of C282Y and H63D in the HFE gene
GENETIC-TESTING. SUM 2000; 4 (2) : 115-120

Oberkanins-C; Moritz-A; De-Villiers-JNP; Kotze-MJ; Fury-F
A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations
GENETIC-TESTING. SUM 2000; 4 (2) : 121-124

Kaler-SG; Devaney-JM; Pettit-EL; Kirshman-R; Marino-MA
Novel method for molecular detection of the two common hereditary hemochromatosis mutations
GENETIC-TESTING. SUM 2000; 4 (2) : 125-129

Beutler-E; Gelbart-T
Large-scale screening for HFE mutations: Methodology and cost
GENETIC-TESTING. SUM 2000; 4 (2) : 131-137,138-142

Jeffrey-GP; Adams-PC
Pitfalls in the genetic diagnosis of hereditary hemochromatosis
GENETIC-TESTING. SUM 2000; 4 (2) : 143-146

Thorstensen-K; Kvitland-M; Asberg-A; Hveem-K
5569G/A polymorphism of the HFE gene: No implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals
GENETIC-TESTING. SUM 2000; 4 (2) : 147-149

Pointon-JJ; Wallace-D; Merryweather-Clarke-AT; Robson-KJH
Uncommon mutations and polymorphisms in the hemochromatosis gene
GENETIC-TESTING. SUM 2000; 4 (2) : 151-161

Lucotte-G; Mercier-G
Celtic origin of the C282Y mutation of hemochromatosis
GENETIC-TESTING. SUM 2000; 4 (2) : 163-169

Sanchez-M; Bruguera-M; Quintero-E; Barrio-Y; Mazzara-R; Rodes-J; Oliva-R
Hereditary hemochromatosis in Spain
GENETIC-TESTING. SUM 2000; 4 (2) : 171-176

Restagno-G; Gomez-AM; Sbaiz-L; De-Gobbi-M; Roetto-A; Bertino-E; Fabris-C; Fiorucci-GC; Fortina-P; Camaschella-C A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan (TM) technology
GENETIC-TESTING. SUM 2000; 4 (2) : 177-181

Merryweather-Clarke-AT; Pointon-JJ; Jouanolle-AM; Rochette-J; Robson-KJH
Geography of HFE C282Y and H63D mutations
GENETIC-TESTING. SUM 2000; 4 (2) : 183-198

Barton-JC; Acton-RT
Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, racial, and ethnic group composition in central Alabama
GENETIC-TESTING. SUM 2000; 4 (2) : 199-206

Barash-CI
Genetic discrimination and screening for hemochromatosis: Then and now
GENETIC-TESTING. SUM 2000; 4 (2) : 213-218

Worwood-M
Early detection of genetic hemochromatosis: Should all young adults be offered the genetic test?
GENETIC-TESTING. SUM 2000; 4 (2) : 219-228

Stangl-MJ; Beuers-U; Schauer-R; Lang-T; Gerbes-A; Briegel-J; Da-Silva-L; Schildberg-FW; Rau-HG
Allogenic liver transplantation - a form of "gene therapy" in metabolic diseases. Munich results and review
CHIRURG-. JUL 2000; 71 (7) : 808-819

Costa-LMG; da-Costa-AR; de-Sousa-M
Voltage-clamp: a useful approach to study in vitro duodenal iron transport in the mouse
BIOMETALS-. JUN 2000; 13 (2) : 169-178

Loreal-O; Pigeon-C; Deugnier-Y; Brissot-P
Iron metabolism
GASTROENTEROLOGIE-CLINIQUE-ET-BIOLOGIQUE. MAY 2000; 24 (5BIS) : B56-B61

Moirand-R
Hemochromatosis
GASTROENTEROLOGIE-CLINIQUE-ET-BIOLOGIQUE. MAY 2000; 24 (5BIS) : B68-B78

Hezode-C; Dhumeaux-D
Iron and chronic liver disease (excluding genetic hemochromatosis and dysmetabolic hepatosiderosis)
GASTROENTEROLOGIE-CLINIQUE-ET-BIOLOGIQUE. MAY 2000; 24 (5BIS) : B82-B87

Trenor-CC; Campagna-DR; Sellers-VM; Andrews-NC; Fleming-MD
The molecular defect in hypotransferrinemic mice
BLOOD-. AUG 1 2000; 96 (3) : 1113-1118

Montosi-G; Paglia-P; Garuti-C; Guzman-CA; Bastin-JM; Colombo-MP; Pietrangelo-A
Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis
BLOOD-. AUG 1 2000; 96 (3) : 1125-1129

Salter-Cid-L; Peterson-PA; Yang-Y
The major histocompatibility complex-encoded HFE in iron homeostasis and immune function
IMMUNOLOGIC-RESEARCH. 2000; 22 (1) : 43-59

Pirisi-M; Toniutto-P; Uzzau-A; Fabris-C; Avellini-C; Scott-C; Apollonio-L; Beltrami-CA; Bresadola-F
Carriage of HFE mutations and outcome of surgical resection for hepatocellular carcinoma in cirrhotic patients
CANCER-. JUL 15 2000; 89 (2) : 297-302

Lam-JC; Roeder-K; Devlin-B
Haplotype fine mapping by evolutionary trees
AMERICAN-JOURNAL-OF-HUMAN-GENETICS. FEB 2000; 66 (2) : 659-673

Whitfield-JB; Cullen-LM; Jazwinska-EC; Powell-LW; Heath-AC; Zhu-G; Duffy-DL; Martin-NG
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
AMERICAN-JOURNAL-OF-HUMAN-GENETICS. APR 2000; 66 (4) : 1246-1258

Brunt-EM; Olynyk-JK; Britton-RS; Janney-CG; Di-Bisceglie-AM; Bacon-BR
Histological evaluation of iron in liver biopsies: Relationship to HFE mutations
AMERICAN-JOURNAL-OF-GASTROENTEROLOGY. JUL 2000; 95 (7) : 1788-1793

Zacharski-LR; Ornstein-DL; Woloshin-S; Schwartz-LM
Association of age, sex, and race with body iron stores in adults: Analysis of NHANES III data
AMERICAN-HEART-JOURNAL. JUL 2000; 140 (1) : 98-104

Erhardt-A; Niederau-C; Osman-Y; Haussinger-D
Hereditary hemochromatosis - new aspects after discovery of the HFE-gene
ZEITSCHRIFT-FUR-GASTROENTEROLOGIE. DEC 1999; 37 (12) : 1179-1185

Thenie-A; Orhant-M; Gicquel-I; Fergelot-P; Le-Gall-JY; David-V; Mosser-J
The HFE gene undergoes alternate splicing processes
BLOOD-CELLS-MOLECULES-AND-DISEASES. APR 2000; 26 (2) : 155-162

Papanikolaou-G; Politou-M; Terpos-E; Fourlemadis-S; Sakellaropoulos-N; Loukopoulos-D
Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity
BLOOD-CELLS-MOLECULES-AND-DISEASES. APR 2000; 26 (2) : 163-168

Drakesmith-H; Townsend-A
The structure and function of HFE
BIOESSAYS-. JUL 2000; 22 (7) : 595-598

Motulsky-AG; Beutler-E
Population screening in hereditary hemochromatosis
ANNUAL-REVIEW-OF-PUBLIC-HEALTH. 2000; 21 : 65-79

Di-Bisceglie-AM; Bonkovsky-HL; Chopra-S; Flamm-S; Reddy-RK; Grace-N; Killenberg-P; Hunt-C; Tamburro-C; Tavill-AS; Ferguson-R; Krawitt-E; Banner-B; Bacon-BR
Iron reduction as an adjuvant to interferon therapy in patients with chronic hepatitis C who have previously not responded to interferon: A multicenter, prospective, randomized, controlled trial
HEPATOLOGY-. JUL 2000; 32 (1) : 135-138

Valverde-D
Hemochromatosis in Galicia (NW Spain): a Celtic influence?
CLINICAL-GENETICS. JUN 2000; 57 (6) : 454-455

South-PK; Morris-VC; Smith-AD; Levander-OA
Effect of selenium deficiency on liver iron stores in mice
NUTRITION-RESEARCH. JUL 2000; 20 (7) : 1027-1040

Schilsky-ML; Mistry-P
Inherited metabolic disease
CURRENT-OPINION-IN-GASTROENTEROLOGY. MAY 2000; 16 (3) : 219-230

Oates-PS; Thomas-C; Freitas-E; Callow-MJ; Morgan-EH
Gene expression of divalent metal transporter 1 and transferrin receptor in duodenum of Belgrade rats
AMERICAN-JOURNAL-OF-PHYSIOLOGY-GASTROINTESTINAL-AND-LIVER-PHYSIOLOGY. JUN 2000; 278 (6) : G930-G936

Himmelmann-A; Bortoluzzi-L; Jansen-S; Fehr-J
[Frequency of HFE gene mutations and genotype-phenotype correlations in patients with hereditary hemochromatosis in Switzerland]
Schweiz-Med-Wochenschr. 2000 Aug 8; 130(31-32): 1112-9

Prows-CA
Hereditary hemochromatosis.
Nurs-Clin-North-Am. 2000 Sep; 35(3): 707-17

Romanova-EA; Levina-AA; Tsibul'skaia-MM; Eremenko-LL; Kaplanskaia-IB; Shitareva-IV; Tsyba-NN
[Indices of iron metabolism in liver homogenates and leukocytes]
Klin-Lab-Diagn. 2000 Apr; (4): 24, 33-4

Beutler-E; Felitti-V; Gelbart-T; Ho-N
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic.
Ann-Intern-Med. 2000 Sep; 133(5): 329-37

Xiong-M; Akey-J; Jin-L
The haplotype linkage disequilibrium test for genome-wide screens: its power and study design.
Pac-Symp-Biocomput. 2000; 675-86

Brunt-EM; Olynyk-JK; Britton-RS; Janney-CG; Di-Bisceglie-AM; Bacon-BR
Histological evaluation of iron in liver biopsies: relationship to HFE mutations.
Am-J-Gastroenterol. 2000 Jul; 95(7): 1788-93

Calado-RT; Franco-RF; Pazin-Filho-A; Simoes-MV; Marin-Neto-JA; Zago-MA
HFE gene mutations in coronary atherothrombotic disease.
Braz-J-Med-Biol-Res. 2000 Mar; 33(3): 301-6

Montosi-G; Paglia-P; Garuti-C; Guzman-CA; Bastin-JM; Colombo-MP; Pietrangelo-A
Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis.
Blood. 2000 Aug 1; 96(3): 1125-9

Stabile-JR; Mason-KT; Boneta-OF
Hereditary hemochromatosis among U.S. Army aviators.
Aviat-Space-Environ-Med. 2000 May; 71(5): 543-4

McKie-AT; Marciani-P; Rolfs-A; Brennan-K; Wehr-K; Barrow-D; Miret-S; Bomford-A; Peters-TJ; Farzaneh-F; Hediger-MA; Hentze-MW; Simpson-RJ
A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.
Mol-Cell. 2000 Feb; 5(2): 299-309

Lee-JY; Yoo-KH; Hahn-SH
HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
J-Korean-Med-Sci. 2000 Apr; 15(2): 179-82

Moalem-S; Percy-ME; Andrews-DF; Kruck-TP; Wong-S; Dalton-AJ; Mehta-P; Fedor-B; Warren-AC
Are hereditary hemochromatosis mutations involved in Alzheimer disease?
Am-J-Med-Genet. 2000 Jul 3; 93(1): 58-66

Byrnes-V; Ryan-E; O'Keane-C; Crowe-J
Immunohistochemistry of the Hfe protein in patients with hereditary hemochromatosis, iron deficiency anemia, and normal controls.
Blood-Cells-Mol-Dis. 2000 Feb; 26(1): 2-8

Zuccon-L; Corsi-B; Levi-S; Mattioli-M; Fracanzani-AL; Corti-A; Albertini-A; Sampietro-M; Fargion-S; Arosio-P
Immunohistochemistry of HFE in the duodenum of C282Y homozygotes with antisera for recombinant HFE protein.
Haematologica. 2000 Apr; 85(4): 346-51

Parkkila-S; Parkkila-AK; Waheed-A; Britton-RS; Zhou-XY; Fleming-RE; Tomatsu-S; Bacon-BR; Sly-WS
Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes.
Haematologica. 2000 Apr; 85(4): 340-5

Akesson-A; Stal-P; Vahter-M
Phlebotomy increases cadmium uptake in hemochromatosis.
Environ-Health-Perspect. 2000 Apr; 108(4): 289-91

Ikuta-K; Fujimoto-Y; Suzuki-Y; Tanaka-K; Saito-H; Ohhira-M; Sasaki-K; Kohgo-Y
Overexpression of hemochromatosis protein, HFE, alters transferrin recycling process in human hepatoma cells.
Biochim-Biophys-Acta. 2000 Apr 17; 1496(2-3): 221-31

Stehney-MA
Genetics in practice: 1. Hereditary hemochromatosis.
Hosp-Pract-Off-Ed. 2000 May 15; 35(5): 101-4

Kohli-M; Schichman-SA; Fink-L; Zent-CS
Use of HFE mutation analysis for hereditary hemochromatosis: the need for physician education in the translation of basic science to clinical practice.
South-Med-J. 2000 May; 93(5): 469-71

Rochette-J; Capron-D; Capron-JP; Julier-C
Screening for hereditary hemochromatosis [letter]
Am-J-Gastroenterol. 2000 May; 95(5): 1368-9

Biasin-MR; Bertin-T; Sardeo-G; Fabris-P; Venza-E; Infantolino-D
Improved molecular diagnosis of hereditary hemochromatosis using a DNA enzyme immunoassay.
Clin-Chem. 2000 May; 46(5): 711-2