Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers

被引:32
作者
Verloes, A
Temple, IK
Hubert, AF
Hope, P
Gould, S
Debauche, C
Verellen, G
Deville, JL
Koulischer, L
Sokal, EM
机构
[1] PRINCESS ANNE HOSP,WESSEX CLIN GENET SERV,SOUTHAMPTON,HANTS,ENGLAND
[2] JOHN RADCLIFFE HOSP,DEPT PAEDIAT,OXFORD OX3 9DU,ENGLAND
[3] JOHN RADCLIFFE HOSP,DEPT HISTOPATHOL,OXFORD OX3 9DU,ENGLAND
[4] UNIV CATHOLIQUE LOUVAIN,ST LUC HOSP,DEPT PAEDIAT GASTROENTEROL,B-1200 BRUSSELS,BELGIUM
[5] UNIV CATHOLIQUE LOUVAIN,ST LUC HOSP,NICU,B-1200 BRUSSELS,BELGIUM
[6] PELZER TOURELLE REG HOSP,DEPT OBSTET & GYNAECOL,VERVIERS,BELGIUM
关键词
neonatal haemochromatosis; half sibs; maternal inheritance;
D O I
10.1136/jmg.33.6.444
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:444 / 449
页数:6
相关论文
共 31 条
[1]   IDIOPATHIC NEONATAL IRON-STORAGE DISEASE [J].
BARNARD, JA ;
MANCI, E .
GASTROENTEROLOGY, 1991, 101 (05) :1420-1427
[2]  
BECICH MJ, 1991, LAB INVEST, V64, pA107
[3]  
BOISSIEU D, 1990, ARCH FR PEDIATR, V47, P23
[4]  
BURDELSKI M, 1994, MANAGEMENT DIGESTIVE
[5]   FAMILIAL NEONATAL HEMOCHROMATOSIS WITH SURVIVAL [J].
COLLETTI, RB ;
CLEMMONS, JJW .
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1988, 7 (01) :39-45
[6]  
COTTIER H, 1957, SCHWEIZ MED WOCHENSC, V37, P39
[7]   IRON STORAGE DISEASE IN PARENTS AND SIBS OF INFANTS WITH NEONATAL HEMOCHROMATOSIS - 30-YEAR FOLLOW-UP [J].
DALHOJ, J ;
KIAER, H ;
WIGGERS, P ;
GRADY, RW ;
JONES, RL ;
KNISELY, AS .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (03) :342-345
[8]   FOETAL AND NEONATAL HEPATITIS AND ITS SEQUELAE [J].
DIBLE, JH ;
HUNT, WE ;
PUGH, VW ;
STEINGOLD, L ;
WOOD, JHF .
JOURNAL OF PATHOLOGY AND BACTERIOLOGY, 1954, 67 (01) :195-&
[9]  
DRISCOLL S G, 1988, American Journal of Human Genetics, V43, pA232
[10]  
EHRLICH JC, 1955, AM J PATHOL, V31, P1013