Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families
- 1 January 1982
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 60 (4), 352-356
- https://doi.org/10.1007/bf00569217
Abstract
In five families with idiopathic (hereditary) hemochromatosis, clinical and biochemical expression of the disease occurred in offspring of probands, suggesting an autosomal dominant mode of inheritance. However, HLA typing of subjects indicated that a homozygous-heterozygous mating almost certainly had occurred in four of the five families, resulting in homozygous offspring. Thus, in these families inheritance of the hemochromatosis trait was best explained in terms of an autosomal recessive or intermediate mode of inheritance. This study demonstrates the value of HLA typing in identifying homozygous-heterozygous matings in hemochromatosis families.This publication has 22 references indexed in Scilit:
- Idiopathic haemochromatosis in the Australian population: HLA linkage and recessivityHuman Immunology, 1981
- HLA typing in idiopathic hemochromatosis: Distinction between homozygotes and heterozygotes with biochemical expressionHepatology, 1981
- 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
- Familial HemochromatosisNew England Journal of Medicine, 1977
- FAMILIAL HEMOCHROMATOSISMedicine, 1977
- Heredity of idiopathic haemochromatosis: A study of 106 familiesClinical Genetics, 1977
- Solid phase radioimmunoassay for serum ferritinClinica Chimica Acta; International Journal of Clinical Chemistry, 1975