Article
Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus.
Human genetics - 1 Dec 1991
Dokal I, Lord D, Rhodes D, Bydder G, Cox T
Abstract excerpt
Hereditary haemochromatosis is a recessive disease in which primary hepatocellular carcinoma, complicating cirrhosis, is responsible for about one-third of deaths in affected homozygotes. We describe a unique HLA haplo-identical pedigree showing parent-to-offspring transmission of hereditary haemochromatosis in whom HLA typing studies, including class I and class II allogenotype analysis, were of no benefit in...
Topics
- Alleles
- Blotting, Southern
- Chromosomes, Human, Pair 6
- Female
- Genes, MHC Class I
- Genetic Linkage
- HLA Antigens
- Hemochromatosis
- Humans
- Iron
- Liver
- Magnetic Resonance Imaging