COINCIDENTAL NON-TRANSFUSIONAL IRON OVERLOAD AND THALASSEMIA MINOR - ASSOCIATION WITH HLA-LINKED HEMOCHROMATOSIS

  • 1 January 1981
    • journal article
    • research article
    • Vol. 58  (4) , 844-848
Abstract
A pedigree was studied in which 5 individuals with .beta.-thalassemia minor had nontransfusional hemochromatosis. Three were children under the age of 10 and 2 were young male adults, ages 28 and 33 yr. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree, 5 identifiable HLA haplotypes were associated with hemochromatosis alleles. Only individuals with 2 hemochromatosis alleles (homozygosity) had heavy Fe loads, whether .beta.-thalassemia minor was present or not. Individuals with .beta.-thalassemia minor but without a hemochromatosis allele had normal transferrin saturation. A 65-yr-old man with .beta.-thalassemia minor and a single hemochromatosis allele had only a minimally elevated transferrin saturation (54%). The presence of .beta.-thalassemia minor did not appear to accentuate the degree of Fe loading expected in individuals homozygous or heterozygous for hemochromatosis alleles. Nontransfusional hemochromatosis found in association with .beta.-thalassemia minor apparently is due primarily to homozygosity for hemochromatosis.

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