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Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis.
Clin Nephrol. 2002 Dec; 58(6):438-44.CN

Abstract

BACKGROUND

The actual prevalence and the clinical relevance of gene mutations of HFE (which are linked to hemochromatosis) have not yet been established in patients on chronic dialysis. On the basis of theoretical premises, it could be hypothesized that these genetic determinants might influence the response to iron intake and the susceptibility for iron overload in patients in parenteral iron therapy. Furthermore, carriers for these mutations might be prone to develop sporadic porphyria cutanea tarda and cardiovascular events.

METHODS

C282Y/H63D mutations of HFE gene were evaluated in 132 patients (34 in peritoneal dialysis, 98 in HD) and correlated with biochemical parameters of iron status (ferritin (FER) concentration and transferrin saturation (TSAT)), red cell parameters (red cell size and hemoglobin content), erythropoietin (EPO) dosage, major cardiovascular events and C-reactive protein as marker of chronic inflammation, in patients without iron therapy and after i.v. iron supplementation (< or = 60 mg/week) and with the presence of biopsy-proven porphyria.

RESULTS

C282Y heterozygous mutation was found in 8/132 (6.6%); H63D homozygous and heterozygous mutations were found in 3/132 (2.3%) and 22/132 (16%) patients, respectively. Two patients (1.5%) showed double heterozygosis. No differences in baseline serum FER and TSAT and the other biochemical and clinical parameters were found in patients bearing mutations alleles nor after continuous iron therapy at low dosages. However, the prevalence of patients capable of maintaining normal hemoglobin (Hb) level without EPO therapy is increased in the C282Y-mutated patients. Only 1 patient out of the 4 with biopsy-proven porphyria cutanea tarda was bearing gene mutations (H63D heterozygosis).

CONCLUSION

C282Y/H63D HFE gene mutations do not seem to be related to major abnormalities in biochemical parameters of iron status in dialysis patients without iron therapy or after i.v. iron supplementation, granted that low dosages are employed. Obviously, as our patients were exposed to a relatively uniform iron regimen in our clinical center (< or = 60 mg/week), it is unclear if other dosing regimens will unmask clinically significant differences between the heterozygotes and normals. The fact that the C282Y-mutated patients more frequently maintain high Hb values without EPO is interesting as could suggest a better use of available iron for erythopoiesis, but needs to be confirmed in larger samples. No clear association is demonstrated with porphyria cutanea tarda and major cardiovascular events.

Authors+Show Affiliations

Section Nephrology, Department of Internal Medicine of the University of Torino, Torino, Italy. ccanavese@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12508966

Citation

Canavese, C, et al. "Clinical Relevance of Hemochromatosis-related HFE C282Y/H63D Gene Mutations in Patients On Chronic Dialysis." Clinical Nephrology, vol. 58, no. 6, 2002, pp. 438-44.
Canavese C, Bergamo D, Barbieri S, et al. Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. Clin Nephrol. 2002;58(6):438-44.
Canavese, C., Bergamo, D., Barbieri, S., Timbaldi, M., Thea, A., Martina, G., Damiani, D., Fenoglio, R., Donati-Marella, B., & Priolo, G. (2002). Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. Clinical Nephrology, 58(6), 438-44.
Canavese C, et al. Clinical Relevance of Hemochromatosis-related HFE C282Y/H63D Gene Mutations in Patients On Chronic Dialysis. Clin Nephrol. 2002;58(6):438-44. PubMed PMID: 12508966.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. AU - Canavese,C, AU - Bergamo,D, AU - Barbieri,S, AU - Timbaldi,M, AU - Thea,A, AU - Martina,G, AU - Damiani,D, AU - Fenoglio,R, AU - Donati-Marella,B, AU - Priolo,G, PY - 2003/1/2/pubmed PY - 2003/4/4/medline PY - 2003/1/2/entrez SP - 438 EP - 44 JF - Clinical nephrology JO - Clin. Nephrol. VL - 58 IS - 6 N2 - BACKGROUND: The actual prevalence and the clinical relevance of gene mutations of HFE (which are linked to hemochromatosis) have not yet been established in patients on chronic dialysis. On the basis of theoretical premises, it could be hypothesized that these genetic determinants might influence the response to iron intake and the susceptibility for iron overload in patients in parenteral iron therapy. Furthermore, carriers for these mutations might be prone to develop sporadic porphyria cutanea tarda and cardiovascular events. METHODS: C282Y/H63D mutations of HFE gene were evaluated in 132 patients (34 in peritoneal dialysis, 98 in HD) and correlated with biochemical parameters of iron status (ferritin (FER) concentration and transferrin saturation (TSAT)), red cell parameters (red cell size and hemoglobin content), erythropoietin (EPO) dosage, major cardiovascular events and C-reactive protein as marker of chronic inflammation, in patients without iron therapy and after i.v. iron supplementation (< or = 60 mg/week) and with the presence of biopsy-proven porphyria. RESULTS: C282Y heterozygous mutation was found in 8/132 (6.6%); H63D homozygous and heterozygous mutations were found in 3/132 (2.3%) and 22/132 (16%) patients, respectively. Two patients (1.5%) showed double heterozygosis. No differences in baseline serum FER and TSAT and the other biochemical and clinical parameters were found in patients bearing mutations alleles nor after continuous iron therapy at low dosages. However, the prevalence of patients capable of maintaining normal hemoglobin (Hb) level without EPO therapy is increased in the C282Y-mutated patients. Only 1 patient out of the 4 with biopsy-proven porphyria cutanea tarda was bearing gene mutations (H63D heterozygosis). CONCLUSION: C282Y/H63D HFE gene mutations do not seem to be related to major abnormalities in biochemical parameters of iron status in dialysis patients without iron therapy or after i.v. iron supplementation, granted that low dosages are employed. Obviously, as our patients were exposed to a relatively uniform iron regimen in our clinical center (< or = 60 mg/week), it is unclear if other dosing regimens will unmask clinically significant differences between the heterozygotes and normals. The fact that the C282Y-mutated patients more frequently maintain high Hb values without EPO is interesting as could suggest a better use of available iron for erythopoiesis, but needs to be confirmed in larger samples. No clear association is demonstrated with porphyria cutanea tarda and major cardiovascular events. SN - 0301-0430 UR - https://www.unboundmedicine.com/medline/citation/12508966/Clinical_relevance_of_hemochromatosis_related_HFE_C282Y/H63D_gene_mutations_in_patients_on_chronic_dialysis_ L2 - http://www.diseaseinfosearch.org/result/3288 DB - PRIME DP - Unbound Medicine ER -