IDIOPATHIC HEMOCHROMATOSIS LINKAGE WITH HLA SYSTEM

  • 1 January 1978
    • journal article
    • research article
    • Vol. 4  (2) , 109-115
Abstract
Selected families [14] containing 2 or more subjects suffering from idiopathic hemochromatosis and 34 unrelated cases were studied for their HLA markers. A3 was present in 75% of the unrelated cases vs. 26% in the normal population (P < 10-8). The frequencies of B7 (38% vs. 19%) and B14 (23% vs. 9%) were also increased (P < 0.05). In most cases both antigens in the B locus were associated with A3. Of 9 affected sib pairs 7 shared both HLA haplotypes, while 2 shared only 1. Significant association between HLA haplotypes and diseases segregation was demonstrated in family studies. These facts are consistent with the recessive inheritance of a strongly A3 linked disease gene responsible for abnormal Fe storage in the heterozygote state. This would account for 64% of the present cases. Most discordances (26%) were from females who are physiologically protected, or children under 17 who might later develop the disease. The remaining 10% of disordant cases could be explained by crossing-over between disease gene and HLA loci or by an heterogeneity of the disease. This provides a method for screening for high risk subjects and perhaps an opportunity for anticipatory prevention.

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