Article
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.
BMC medical genetics - 6 Nov 2008
Cruz Eugénia, Whittington Chris, Krikler Samuel H, Mascarenhas Cláudia, Lacerda Rosa, Vieira Jorge, Porto Graça
Abstract excerpt
BACKGROUND: Hereditary Hemochromatosis(HH) is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of the...
Topics
- Adult
- Base Sequence
- CD8-Positive T-Lymphocytes
- Canada
- Conserved Sequence
- Female
- Haplotypes
- Hemochromatosis
- Humans
- Male
- Microsatellite Repeats
- Middle Aged
- Physical Chromosome Mapping
- Polymorphism, Single Nucleotide