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Idiopathic haemochromatosis: An autosomal recessive disease
Author(s) -
Saddi R.,
Feingold J.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01688.x
Subject(s) - pedigree chart , penetrance , proband , genetics , offspring , disease , consanguineous marriage , autosomal recessive inheritance , biology , consanguinity , medicine , pediatrics , mutation , gene , pregnancy , phenotype
A genetic analysis of 96 pedigrees has confirmed our previously published report and demonstrated an autosomal recessive mode of inheritance for idiopathic haemochromatosis. Three generations have been analyzed in each family: the sibship of the patient; the parents of the patient; the offspring of the patient. All the data are consistent with a recessive autosomal transmission: (1) An increased rate of consanguineous matings was found among the parents of the patients. (2) Not a single patient having the disease (latent or manifat) was found among either the parents or the children of the probands. (3) Three distinct levels of iron stores ‐ normal, slightly increased and heavily overloaded ‐ have been statistically separated in the haemochroma‐totic families. (4) The result of a segregation analysis has shown a percentage of parsom with heavy iron overloads per sibship corresponding to that expected for a recessive autosomal transmission, taking into account a penetrance of 0.20 in the female (the estimate used in this study).