Abstract
Hereditary hemochromatosis (HH) is a genetically heterogeneous disease. The HFE gene resides on chromosome 6 and its mutations account for the majority of HH cases in populations of northern European ancestry. Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. We have performed a linkage study in five unrelated families of Greek origin with non-HFE hemochromatosis. Linkage at the chromosome 1q21 JH locus was detected in affected members with the use of polymorphic markers. Comparison of haplotypes between Greek and Italian JH patients revealed the presence of a common haplotype. However, the fact that many other haplotypes carrying the JH defect were observed in the two populations indicates that the respective mutations may have occurred in different genetic backgrounds. We suggest that hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
| Original language | English |
|---|---|
| Pages (from-to) | 744-749 |
| Number of pages | 6 |
| Journal | Blood cells, molecules & diseases |
| Volume | 27 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2001 |
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Keywords
- 1q chromosome
- HFE
- Iron
- Juvenile hemochromatosis
ASJC Scopus subject areas
- Molecular Biology
- Molecular Medicine
- Hematology
Cite this
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. / Papanikolaou, G.; Politou, M.; Roetto, A.; Bosio, S.; Sakelaropoulos, N.; Camaschella, C.; Loukopoulos, D.
In: Blood cells, molecules & diseases, Vol. 27, No. 4, 2001, p. 744-749.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
AU - Papanikolaou, G.
AU - Politou, M.
AU - Roetto, A.
AU - Bosio, S.
AU - Sakelaropoulos, N.
AU - Camaschella, C.
AU - Loukopoulos, D.
PY - 2001
Y1 - 2001
N2 - Hereditary hemochromatosis (HH) is a genetically heterogeneous disease. The HFE gene resides on chromosome 6 and its mutations account for the majority of HH cases in populations of northern European ancestry. Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. We have performed a linkage study in five unrelated families of Greek origin with non-HFE hemochromatosis. Linkage at the chromosome 1q21 JH locus was detected in affected members with the use of polymorphic markers. Comparison of haplotypes between Greek and Italian JH patients revealed the presence of a common haplotype. However, the fact that many other haplotypes carrying the JH defect were observed in the two populations indicates that the respective mutations may have occurred in different genetic backgrounds. We suggest that hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
AB - Hereditary hemochromatosis (HH) is a genetically heterogeneous disease. The HFE gene resides on chromosome 6 and its mutations account for the majority of HH cases in populations of northern European ancestry. Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. We have performed a linkage study in five unrelated families of Greek origin with non-HFE hemochromatosis. Linkage at the chromosome 1q21 JH locus was detected in affected members with the use of polymorphic markers. Comparison of haplotypes between Greek and Italian JH patients revealed the presence of a common haplotype. However, the fact that many other haplotypes carrying the JH defect were observed in the two populations indicates that the respective mutations may have occurred in different genetic backgrounds. We suggest that hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
KW - 1q chromosome
KW - HFE
KW - Iron
KW - Juvenile hemochromatosis
UR - http://www.scopus.com/inward/record.url?scp=0034749597&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034749597&partnerID=8YFLogxK
U2 - 10.1006/bcmd.2001.0444
DO - 10.1006/bcmd.2001.0444
M3 - Article
C2 - 11778658
AN - SCOPUS:0034749597
VL - 27
SP - 744
EP - 749
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
SN - 1079-9796
IS - 4
ER -