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• Title: Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women (Molecular Diagnostics and Genetics)
• Author : Clinical Chemistry
• Release Date : January 01, 2000
• Genre: Chemistry,Books,Science & Nature,
• Pages : * pages
• Size : 207 KB

Description

Hereditary hemochromatosis is a common iron overload disease with autosomal recessive inheritance that occurs predominantly in individuals of Northern European origin. Recently, a novel MHC class 1-like candidate gene, termed HFE, for hereditary hemochromatosis containing two missense mutations was identified (1). Homozygosity for the C282Y mutation has been observed in 85-90% of patients of Northern European origin with typical hereditary hemochromatosis (2-4). The H63D mutation is heterozygous in 15-20% of the population and may contribute to increased hepatic iron concentrations, especially when combined with the C282Y mutation (5, 6). The proportion of heterozygotes carrying one C282Y mutated allele is high in Anglo-Celtic-based populations. Heterozygosity for the C282Y mutation can occur either as a C282Y wild-type heterozygous (C282Y/wt) [7] or compound heterozygous (C282Y/H63D) HFE genotype. Our recent population study of asymptomatic Australians revealed a prevalence of 11.9% for C282Y/wt heterozygosity, 2.2% for C282Y/H63D heterozygosity, and 0.53% (1 in 188) for homozygosity of the C282Y mutation (7). Women of childbearing age have a high prevalence of iron deficiency and associated anemia. A recent US survey showed that 9-11% of women in this age group were iron deficient and that 2-5% had iron-deficiency anemia (8). Iron deficiency has many negative effects on health, including impairments in immune response and work performance (9). Recent reports have suggested that heterozygosity for the C282Y mutation may confer a protective effect against iron deficiency in women of childbearing age. A study of young women in Austria reported significantly increased values for hemoglobin and transferrin saturation values in C282Y heterozygous women (10), and a US study found that heterozygous women had a significantly lower incidence of iron deficiency (11). However, these studies did not independently evaluate the contributions of the C282Y/wt and C282Y/H63D HFE genotypes.

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