Genetics of Hemochromatosis
- 6 December 1979
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 301 (23), 1291-1292
- https://doi.org/10.1056/nejm197912063012319
Abstract
To the Editor: Recent studies published in the Journal 1 , 2 indicate that hemochromatosis is an autosomal recessive condition with calculated homozygote frequencies (q2) ranging from one in 319 among Utah Mormons2 to one in 400 among Frenchmen (Brittany).3 An autopsy frequency of one in 500 was found in Scotland.4 Thus, hemochromatosis is among the most common genetic disorders. Prevalence studies in other populations must be used to exclude incidence figures inflated by biased ascertainment. These new estimates suggest that 8.4 to 10.5 per cent of these populations are heterozygotes (2pq) or carriers of the hemochromatosis gene. Even on the basis . . .Keywords
This publication has 5 references indexed in Scilit:
- Hereditary HemochromatosisNew England Journal of Medicine, 1979
- Serum Ferritin as a Possible Marker of the Hemochromatosis AlleleNew England Journal of Medicine, 1979
- EARLY DETECTION OF IDIOPATHIC HqMOCHROMATOSIS: RELATIVE VALUE OF SERUM-FERRITIN AND HLA TYPINGThe Lancet, 1979
- Idiopathic HemochromatosisNew England Journal of Medicine, 1977
- Hepatic cirrhosis: A clinico-pathological review of 520 casesJournal of Clinical Pathology, 1973