Heredity of idiopathic haemochromatosis: a study of 106 families.

Abstract:

:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relatives who presented with some anomaly were submitted to a desferrioxamine test and, if the latter showed a high urinary iron output, to a liver biopsy. While absent in relatives of A.H. patients, iron overload was present in 78 out of 499 relatives of I.H. patients: 29 major and 49 minor forms. The major forms involved the sibships almost exclusively. The genetic analysis showed much evidence in favour of a recessive or rather intermediate form of inheritance, with heterozygous developing minor forms. However, other modes of transmission, especially polygenic (probably oligogenic), cannot be totally excluded. Data from recent studies showing a strong correlation between I.H. and certain HLA antigens do not conflict with the above conclusions.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

doi

10.1111/j.1399-0004.1977.tb01324.x

subject

Has Abstract

pub_date

1977-05-01 00:00:00

pages

327-41

issue

5

eissn

0009-9163

issn

1399-0004

journal_volume

11

pub_type

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