Article
Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?
Clinical chemistry - 1 Dec 1998
Datz C, Haas T, Rinner H, Sandhofer F, Patsch W, Paulweber B
Abstract excerpt
Genetic hemochromatosis (GH) is the most common autosomal-recessive disorder (1 in 300 in populations of Celtic origin). Homozygosity for a C282Y mutation in the hemochromatosis (HFE) gene is the underlying defect in approximately 80% of patients with GH, and 3. 2-13% of Caucasians are heterozygo...
Topics
- Adolescent
- Adult
- Cysteine
- Female
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Hemoglobins
- Heterozygote
- Histocompatibility Antigens Class I
- Humans
- Iron
- Iron Deficiencies
- Membrane Proteins
- Mutation
- Transferrin