TY - JOUR
T1 - Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency
T2 - Study of Italian cases
AU - Zanella, Alberto
AU - Bianchi, Paola
AU - Iurlo, Alessandra
AU - Boschetti, Carla
AU - Taioli, Emanuela
AU - Vercellati, Cristina
AU - Zappa, Manuela
AU - Fermo, Elisa
AU - Tavazzi, Dario
AU - Sampietro, Maurizio
PY - 2001
Y1 - 2001
N2 - We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients from 29 unrelated families. Nine had received multiple transfusions. Thirteen of the 25 nontransfused patients displayed increased serum ferritin concentration, in the absence of conditions known to raise this parameter. HFE genotype was abnormal in 9 of 34 patients. The allele frequency was 1.8% for mutation 845G→ A (C282Y) and 16.1% for mutation 187C→ G (H63D). Nontransfused subjects with abnormal genotype had serum ferritin and transferrin saturation values significantly higher than those with wild-type genotype. Of the 12 adult nontransfused patients with increased iron status parameters, 1 was C282Y homozygous, 1 compound heterozygous for C282Y and H63D, 3 H63D heterozygous, and 7 had a normal HFE genotype. Serum ferritin and transferrin saturation were not related to hemoglobin, reticulocytes, and bilirubin concentration. At multivariate analysis serum ferritin was independently associated with age and gender, but not with splenectomy and HFE genotypes. The retrospective evaluation of the iron status profile of 10 patients (3 with abnormal and 7 with wild-type HFE genotype) with at least 10 years follow-up showed that overt iron accumulation requiring iron chelation had occurred only in the 3 patients (2 of whom were splenectomized) with the mutated HFE gene.
AB - We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients from 29 unrelated families. Nine had received multiple transfusions. Thirteen of the 25 nontransfused patients displayed increased serum ferritin concentration, in the absence of conditions known to raise this parameter. HFE genotype was abnormal in 9 of 34 patients. The allele frequency was 1.8% for mutation 845G→ A (C282Y) and 16.1% for mutation 187C→ G (H63D). Nontransfused subjects with abnormal genotype had serum ferritin and transferrin saturation values significantly higher than those with wild-type genotype. Of the 12 adult nontransfused patients with increased iron status parameters, 1 was C282Y homozygous, 1 compound heterozygous for C282Y and H63D, 3 H63D heterozygous, and 7 had a normal HFE genotype. Serum ferritin and transferrin saturation were not related to hemoglobin, reticulocytes, and bilirubin concentration. At multivariate analysis serum ferritin was independently associated with age and gender, but not with splenectomy and HFE genotypes. The retrospective evaluation of the iron status profile of 10 patients (3 with abnormal and 7 with wild-type HFE genotype) with at least 10 years follow-up showed that overt iron accumulation requiring iron chelation had occurred only in the 3 patients (2 of whom were splenectomized) with the mutated HFE gene.
KW - HFE genotypes
KW - Hemolytic anemia
KW - Hereditary hemocromatosis
KW - Iron overload
KW - Pyruvate kinase deficiency
UR - http://www.scopus.com/inward/record.url?scp=17944378860&partnerID=8YFLogxK
U2 - 10.1006/bcmd.2001.0433
DO - 10.1006/bcmd.2001.0433
M3 - Article
C2 - 11482880
AN - SCOPUS:17944378860
SN - 1079-9796
VL - 27
SP - 653
EP - 661
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
IS - 3
ER -