RT Journal Article
SR Electronic
T1 Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 444
OP 449
DO 10.1136/jmg.33.6.444
VO 33
IS 6
A1 A Verloes
A1 I K Temple
A1 A F Hubert
A1 P Hope
A1 S Gould
A1 C Debauche
A1 G Verellen
A1 J L Deville
A1 L Koulischer
A1 E M Sokal
YR 1996
UL http://jmg.bmj.com/content/33/6/444.abstract
AB We report two families in which neonatal haemochromatosis was observed in half sibs. In the first family, two successive girls were born of different fathers. In the second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing two affected half sisters, revive the debate over the inheritance of neonatal haemochromatosis. Incomplete penetrance or gonadal mosaicism for a dominant disorder, a maternal "environmental factor", or mitochondrial defect may be more suitable explanations than autosomal recessive inheritance in this condition. Alternative modes of fertilisation, such as donor insemination or in vitro fertilisation with donor eggs, should be considered with caution.