PMID- 1973598
OWN - NLM
STAT- MEDLINE
DCOM- 19900817
LR  - 20181113
IS  - 0002-9440 (Print)
IS  - 1525-2191 (Electronic)
IS  - 0002-9440 (Linking)
VI  - 137
IP  - 1
DP  - 1990 Jul
TI  - Neonatal hemochromatosis. Genetic analysis of transferrin-receptor, 
      H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I 
      region.
PG  - 149-53
AB  - Neonatal hemochromatosis (NH), a generally fatal disorder of infancy, is 
      characterized by severe hepatic insufficiency of intrauterine onset and by marked 
      organ iron loading. Its cause is unknown. It has been suggested that NH may 
      represent an unusual manifestation of hereditary hemochromatosis (HH), which is 
      human leukocyte antigen (HLA) linked. Evidence for major rearrangements or 
      deletions at the HLA class I region and at three loci directly involved in iron 
      metabolism (H- and L-apoferritin and the transferrin receptor [TfR]) was sought. 
      The population studied included five probands with NH and 14 first-degree family 
      members in a total of six kindreds. Also sought were HLA associations with NH by 
      collating the results of HLA serotyping in these 19 persons and in 17 members of 
      7 additional kindreds in which NH has occurred, including 5 probands with NH and 
      12 first-degree family members. We found no evidence for major rearrangements or 
      deletions in H- or L-apoferritin genes, in TfR genes, or within the HLA locus. We 
      found no evidence for linkage of NH to HLA serotypes. We conclude that while NH 
      and HH are similar in their patterns of iron loading, they are not genetically 
      related.
FAU - Hardy, L
AU  - Hardy L
AD  - Department of Pathology, University of Utah School of Medicine, Salt Lake City 
      84132.
FAU - Hansen, J L
AU  - Hansen JL
FAU - Kushner, J P
AU  - Kushner JP
FAU - Knisely, A S
AU  - Knisely AS
LA  - eng
GR  - 5T32 DK07115/DK/NIDDK NIH HHS/United States
GR  - R01 AM20630/AM/NIADDK NIH HHS/United States
GR  - R29 DK40012/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Pathol
JT  - The American journal of pathology
JID - 0370502
RN  - 0 (Receptors, Transferrin)
RN  - 9007-73-2 (Ferritins)
RN  - 9013-31-4 (Apoferritins)
SB  - IM
MH  - Adult
MH  - Apoferritins/*genetics
MH  - *Chromosome Mapping
MH  - Female
MH  - Ferritins/*analogs & derivatives
MH  - *Genes, MHC Class I
MH  - Hemochromatosis/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Polymorphism, Restriction Fragment Length
MH  - Receptors, Transferrin/*genetics
MH  - Serotyping
PMC - PMC1877690
EDAT- 1990/07/01 00:00
MHDA- 1990/07/01 00:01
PMCR- 1991/01/01
CRDT- 1990/07/01 00:00
PHST- 1990/07/01 00:00 [pubmed]
PHST- 1990/07/01 00:01 [medline]
PHST- 1990/07/01 00:00 [entrez]
PHST- 1991/01/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Pathol. 1990 Jul;137(1):149-53.