Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Sep;45(3):465–470.

Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

I B Borecki 1, D C Rao 1, J Yaouanq 1, J M Lalouel 1
PMCID: PMC1683417  PMID: 2773939

Abstract

A genetic analysis of the segregation of hereditary hemochromatosis, indexed by the measurement of latent capacity of transferrin (LCAP), was undertaken in an ascertained sample of 147 pedigrees from Brittany, France. There were no mean differences by sex in the distribution of LCAP in the control sample, although in the family data there was a higher representation of males with low values than of females with low values, consistent with the higher proportion of affected males. The results of bivariate segregation analysis revealed no systematic evidence for heterozygous expression either in the biochemical domain of LCAP abnormalities or in increased liability to overt symptomatic disease. Joint consideration of the quantitative variable with hemochromatosis affection status allowed clear resolution of a recessive single-gene inheritance pattern in these families.

Full text

PDF
466

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bassett M. L., Halliday J. W., Powell L. W. HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression. Hepatology. 1981 Mar-Apr;1(2):120–126. doi: 10.1002/hep.1840010206. [DOI] [PubMed] [Google Scholar]
  2. Beaumont C., Simon M., Fauchet R., Hespel J. P., Brissot P., Genetet B., Bourel M. Serum ferritin as a possible marker of the hemochromatosis allele. N Engl J Med. 1979 Jul 26;301(4):169–174. doi: 10.1056/NEJM197907263010401. [DOI] [PubMed] [Google Scholar]
  3. Borwein S. T., Ghent C. N., Flanagan P. R., Chamberlain M. J., Valberg L. S. Genetic and phenotypic expression of hemochromatosis in Canadians. Clin Invest Med. 1983;6(3):171–179. [PubMed] [Google Scholar]
  4. Cartwright G. E., Edwards C. Q., Kravitz K., Skolnick M., Amos D. B., Johnson A., Buskjaer L. Hereditary hemochromatosis. Phenotypic expression of the disease. N Engl J Med. 1979 Jul 26;301(4):175–179. doi: 10.1056/NEJM197907263010402. [DOI] [PubMed] [Google Scholar]
  5. Dadone M. M., Kushner J. P., Edwards C. Q., Bishop D. T., Skolnick M. H. Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol. 1982 Aug;78(2):196–207. doi: 10.1093/ajcp/78.2.196. [DOI] [PubMed] [Google Scholar]
  6. Edwards C. Q., Griffen L. M., Goldgar D., Drummond C., Skolnick M. H., Kushner J. P. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med. 1988 May 26;318(21):1355–1362. doi: 10.1056/NEJM198805263182103. [DOI] [PubMed] [Google Scholar]
  7. Kravitz K., Skolnick M., Cannings C., Carmelli D., Baty B., Amos B., Johnson A., Mendell N., Edwards C., Cartwright G. Genetic linkage between hereditary hemochromatosis and HLA. Am J Hum Genet. 1979 Sep;31(5):601–619. [PMC free article] [PubMed] [Google Scholar]
  8. Lalouel J. M., Le Mignon L., Simon M., Fauchet R., Bourel M., Rao D. C., Morton N. E. Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. Am J Hum Genet. 1985 Jul;37(4):700–718. [PMC free article] [PubMed] [Google Scholar]
  9. Lalouel J. M., Morton N. E. Complex segregation analysis with pointers. Hum Hered. 1981;31(5):312–321. doi: 10.1159/000153231. [DOI] [PubMed] [Google Scholar]
  10. Lalouel J. M., Rao D. C., Morton N. E., Elston R. C. A unified model for complex segregation analysis. Am J Hum Genet. 1983 Sep;35(5):816–826. [PMC free article] [PubMed] [Google Scholar]
  11. Olsson K. S., Ritter B., Rosén U., Heedman P. A., Staugård F. Prevalence of iron overload in central Sweden. Acta Med Scand. 1983;213(2):145–150. doi: 10.1111/j.0954-6820.1983.tb03706.x. [DOI] [PubMed] [Google Scholar]
  12. RAMSAY W. N. The determination of iron in blood plasma or serum. Clin Chim Acta. 1957 Jun;2(3):214–220. doi: 10.1016/0009-8981(57)90105-5. [DOI] [PubMed] [Google Scholar]
  13. Simon M., Bourel M., Genetet B., Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977 Nov 10;297(19):1017–1021. doi: 10.1056/NEJM197711102971901. [DOI] [PubMed] [Google Scholar]
  14. Simon M., Fauchet R., Hespel J. P., Beaumont C., Brissot P., Hery B., Hita De Nercy Y., Genetet B., Bourel M. Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. Gastroenterology. 1980 Apr;78(4):703–708. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES