The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients.
In this study, we evaluated the impact of mutations of the HFE and ferroportin gene on iron overload in thalassemia intermedia and betas/betathal patients. Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in either group of patients.
Politou
Marianna
M
Kalotychou
Vassiliki
V
Pissia
Maria
M
Rombos
Yannis
Y
Sakellaropoulos
Nikos
N
Papanikolaou
George
G
D000328:Adult; D000368:Aged; D000740:Anemia / Q000209:etiology; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood; D005838:Genotype; D006115:Greece; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D013789:Thalassemia / Q000378:metabolism; D000098742:Ferroportin
D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000098742:Ferroportin; D005293:Ferritins