Literature DB >> 8782042

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

A Verloes1, I K Temple, A F Hubert, P Hope, S Gould, C Debauche, G Verellen, J L Deville, L Koulischer, E M Sokal.   

Abstract

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.

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Year:  1996        PMID: 8782042      PMCID: PMC1050628          DOI: 10.1136/jmg.33.6.444

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  26 in total

1.  Congenital cirrhosis of the liver with kernicterus; report of two cases in siblings with a discussion of the relationship to so-called neonatal hepatitis and to iso-immunization disease.

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Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

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Journal:  J Pediatr Gastroenterol Nutr       Date:  1988 Jan-Feb       Impact factor: 2.839

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Journal:  Hum Pathol       Date:  1989-04       Impact factor: 3.466

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Authors:  A S Knisely; M S Magid; M R Dische; E Cutz
Journal:  Birth Defects Orig Artic Ser       Date:  1987

8.  [Familial infantile pigmentary cirrhosis. Apropos of a case].

Authors:  C Nezelof; J M Watchi; P Ganter; A Brault
Journal:  Presse Med       Date:  1967-02-22       Impact factor: 1.228

9.  Neonatal hemochromatosis: failure of deferoxamine therapy.

Authors:  M M Jonas; Y A Kaweblum; R Fojaco
Journal:  J Pediatr Gastroenterol Nutr       Date:  1987 Nov-Dec       Impact factor: 2.839

10.  Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies.

Authors:  M M Silver; D W Beverley; L S Valberg; E Cutz; M J Phillips; W A Shaheed
Journal:  Am J Pathol       Date:  1987-09       Impact factor: 4.307

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  5 in total

Review 1.  Neonatal hemochromatosis.

Authors:  Amy G Feldman; Peter F Whitington
Journal:  J Clin Exp Hepatol       Date:  2013-11-27

2.  Liver transplantation for inborn errors of liver metabolism.

Authors:  Efienne M Sokal
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

3.  Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.

Authors:  A L Kelly; P W Lunt; F Rodrigues; P J Berry; D M Flynn; P J McKiernan; D A Kelly; G Mieli-Vergani; T M Cox
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

4.  Neonatal haemochromatosis associated with gastroschisis.

Authors:  M P Thornton; S S Marven; M S Tanner; B Gürtl-Lackner
Journal:  Pediatr Surg Int       Date:  2008-03-13       Impact factor: 1.827

5.  Clinical and Imaging Resolution of Neonatal Hemochromatosis following Treatment.

Authors:  Ayelet Machtei; Gil Klinger; Rivka Shapiro; Osnat Konen; Lea Sirota
Journal:  Case Rep Crit Care       Date:  2014-06-24
  5 in total

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