Blood samples from 20 adults with hyperferritinemia were collected to investigate the inheritance ofHFEgene polymorphisms (H63D, C282Y, andS65C); the group were categorized based on serum iron, ferritin, and TS levels into low, normal, and high. DNA samples underwent molecular analysis using ...
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695– 697. 21. Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T et al. A mutation, in the iron-responsive element of H ferritin...
The gene test is most useful in screening adult blood relatives of an identifiedproband. Screening blood relatives is crucial, because 25% of siblings and 5% of children of a proband will have HH.HFEgene testing should replace more expensive HLA typing previously used to screen siblings. In add...
tosis and currently on venesection treatment at the Brest blood center (Table 2). The HFE gene test confirmed the existence of a mutation on both chromosomes for 89.7% of the 478 studied probands. Among these positive probands 90.4% with 95% CI [0.876 – 0.932] were homozygous for the ...
Dorak MT, Burnett AK, Worwood M, Sproul AM, Gibson BE: The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Blood. 1999, 94: 3957-3958. CAS PubMed Google Scholar Dorak MT, Burnett AK, Worwood M: HFE gene mutations in susceptibilit...
Dorak MT, Burnett AK, Worwood M, Sproul AM, Gibson BE: The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Blood. 1999, 94: 3957-3958. CAS PubMed Google Scholar Dorak MT, Burnett AK, Worwood M: HFE gene mutations in susceptibilit...
A computerized and manual search was performed to identify reports of case series of persons with malignancies in whomHFEmutation analysis had been performed. Statistical Considerations The present data set consisted of observations on 100 persons who collectively had 110 primary malignancies; data on no...
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat Genet, 13 (1996), pp. 399-408 View in ScopusGoogle Scholar 4 Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis Blood Cells Mol Dis, 22 (1996), pp. 187-194 ...
BACKGROUND/AIMS: In families of patients with clinically detected hereditary hemochromatosis (HH) early screening has been suggested to prevent morbidity and mortality. Here, we aim to identify determinants for iron overload in first-degree family members of C282Y homozygous probands with clinically ...
Conclusions:HRM analysis is an appealing technology forHFEgene screening. It is a robust technique that can be widely adopted in diagnostic laboratories to facilitate gene mutation screening. Keywords:haemochromatosis;HFE gene;high resolution melting ...