Abstract
Background and Objectives. Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin. Design and Methods. Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay. Results. In the series studied the overall C282Y allele frequency was 9% and that of the H63D and S65C was 22.2% and 1.4%, respectively. One rare HFE allele (E168Q), but no TFR2 mutation was detected. When checked at a second examination, transferrin saturation was significantly higher in C282Y homozygotes, H63D/C282Y compound heterozygotes and H63D homozygotes as compared to wild-type subjects (p
| Original language | English |
|---|---|
| Pages (from-to) | 396-401 |
| Number of pages | 6 |
| Journal | Haematologica |
| Volume | 88 |
| Issue number | 4 |
| Publication status | Published - Apr 1 2003 |
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Keywords
- Hemochromatosis
- HFE
- Screening
- TFR2
ASJC Scopus subject areas
- Hematology
Cite this
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. / De Gobbi, Marco; Daraio, Filomena; Oberkanins, Christian; Moritz, Anne; Kury, Fritz; Fiorelli, Gemino; Camaschella, Clara.
In: Haematologica, Vol. 88, No. 4, 01.04.2003, p. 396-401.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload
AU - De Gobbi, Marco
AU - Daraio, Filomena
AU - Oberkanins, Christian
AU - Moritz, Anne
AU - Kury, Fritz
AU - Fiorelli, Gemino
AU - Camaschella, Clara
PY - 2003/4/1
Y1 - 2003/4/1
N2 - Background and Objectives. Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin. Design and Methods. Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay. Results. In the series studied the overall C282Y allele frequency was 9% and that of the H63D and S65C was 22.2% and 1.4%, respectively. One rare HFE allele (E168Q), but no TFR2 mutation was detected. When checked at a second examination, transferrin saturation was significantly higher in C282Y homozygotes, H63D/C282Y compound heterozygotes and H63D homozygotes as compared to wild-type subjects (p
AB - Background and Objectives. Hereditary hemochromatosis is a recessive condition characterized by iron accumulation in several organs, followed by organ damage and failure. The disorder is prevalently due to C282Y and H63D mutations in the HFE gene, but additional HFE and TFR2 mutations have been reported. Early iron overload may be assessed by biochemical parameters such as increased transferrin saturation and serum ferritin. Design and Methods. Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay. Results. In the series studied the overall C282Y allele frequency was 9% and that of the H63D and S65C was 22.2% and 1.4%, respectively. One rare HFE allele (E168Q), but no TFR2 mutation was detected. When checked at a second examination, transferrin saturation was significantly higher in C282Y homozygotes, H63D/C282Y compound heterozygotes and H63D homozygotes as compared to wild-type subjects (p
KW - Hemochromatosis
KW - HFE
KW - Screening
KW - TFR2
UR - http://www.scopus.com/inward/record.url?scp=0038373865&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0038373865&partnerID=8YFLogxK
M3 - Article
C2 - 12681966
AN - SCOPUS:0038373865
VL - 88
SP - 396
EP - 401
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 4
ER -