TY - JOUR
T1 - Screening selected blood donors with biochemical iron overload for hemochromatosis
T2 - A regional experience
AU - De Gobbi, Marco
AU - D'Antico, Sergio
AU - Castagno, Franco
AU - Testa, Domenico
AU - Merlini, Roberta
AU - Bondi, Alessandro
AU - Camaschella, Clara
PY - 2004/10
Y1 - 2004/10
N2 - Backgrounds and Objectives. Hemochromatosis is a genetic disorder characterized by progressive iron overload which leads to early abnormalities of iron parameters (increased transferrin saturation =TS and serum ferritin=SF) and late clinical complications. The disease is prevalently due to C282Y and H63D mutations in the HFE gene, but additional molecular defects are present in a minority of patients. Design and Methods. From January to December 2002 we screened first time blood donors of Piedmont, a region of North-western Italy, for TS>45%. Individuals with TS>45% underwent a second fasting check, SF assessment and molecular tests, investigating 12 hemochromatosis-associated molecular defects. Results. A total of 13,998 subjects were screened; 868 (6.2%) had TS>45% and were recalled. Four hundred and eight-six underwent molecular testing. In this selected population allele frequencies of C282Y, H63D and S65C were 6.8%, 22.4% and 1.0%, respectively. No rare mutations were detected, except E168Q in HFE. When measured during fasting, TS was significantly higher in C282Y homozygotes and H63D/C282Y heterozygotes (p45% is feasible but, in order to be cost effective should be based on the identification of the two prevalent mutations even in an area where several forms of hemochromatosis have been reported.
AB - Backgrounds and Objectives. Hemochromatosis is a genetic disorder characterized by progressive iron overload which leads to early abnormalities of iron parameters (increased transferrin saturation =TS and serum ferritin=SF) and late clinical complications. The disease is prevalently due to C282Y and H63D mutations in the HFE gene, but additional molecular defects are present in a minority of patients. Design and Methods. From January to December 2002 we screened first time blood donors of Piedmont, a region of North-western Italy, for TS>45%. Individuals with TS>45% underwent a second fasting check, SF assessment and molecular tests, investigating 12 hemochromatosis-associated molecular defects. Results. A total of 13,998 subjects were screened; 868 (6.2%) had TS>45% and were recalled. Four hundred and eight-six underwent molecular testing. In this selected population allele frequencies of C282Y, H63D and S65C were 6.8%, 22.4% and 1.0%, respectively. No rare mutations were detected, except E168Q in HFE. When measured during fasting, TS was significantly higher in C282Y homozygotes and H63D/C282Y heterozygotes (p45% is feasible but, in order to be cost effective should be based on the identification of the two prevalent mutations even in an area where several forms of hemochromatosis have been reported.
KW - Blood donors
KW - Hemochromatosis
KW - HFE
KW - Screening
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M3 - Article
C2 - 15477198
AN - SCOPUS:6344223437
VL - 89
SP - 1161
EP - 1167
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 10
ER -