PMID- 9460809
OWN - NLM
STAT- MEDLINE
DCOM- 19980327
LR  - 20051116
IS  - 0037-1963 (Print)
IS  - 0037-1963 (Linking)
VI  - 35
IP  - 1
DP  - 1998 Jan
TI  - Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects.
PG  - 55-71
AB  - The human leukocyte antigen (HLA)-linked iron-loading gene (HFE) associated with 
      the autosomal recessive disorder known as hereditary hemochromatosis occurs in 
      about 10% of subjects of European descent, most of whom are unaffected 
      heterozygotes. In contrast, the 3 to 5 per 1,000 who are homozygotes are at risk 
      of developing severe and potentially lethal iron overload, with damage to a 
      number of organs, including the liver, pancreas, heart, joints, and the endocrine 
      glands. Although the removal of the excess iron by repeated venesections is 
      simple, effective, and safe therapy, much of the organ damage, once it has 
      occurred, is irreversible. Because symptoms are often nonspecific, it is 
      important for physicians in the relevant specialties to develop a high index of 
      suspicion and to apply widely the appropriate screening tests, including 
      transferrin saturation and serum ferritin concentration. Equally important is the 
      detection of affected family members, who are usually siblings, before they have 
      developed significant iron overload. In addition, screening of populations in 
      which the prevalence of hereditary hemochromatosis is high has become an 
      attractive and cost-effective option, especially now that the molecular structure 
      of the HFE gene has been defined. Using this approach it is now possible to 
      detect individuals homozygous or heterozygous for the gene using a simple 
      polymerase chain reaction-based test. The application of this exciting new tool 
      promises to provide fresh insights into the range of phenotypic expression in 
      hereditary hemochromatosis. A challenge for the future will be to define the 
      genetic or environmental factors responsible for iron overload in up to 20% of 
      patients with clinical hemochromatosis who do not have the HFE gene.
FAU - Bothwell, T H
AU  - Bothwell TH
AD  - Department of Medicine, Faculty of Health Sciences, University of the 
      Witwatersrand, Johannesburg, South Africa.
FAU - MacPhail, A P
AU  - MacPhail AP
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Semin Hematol
JT  - Seminars in hematology
JID - 0404514
SB  - IM
MH  - Family Health
MH  - Hemochromatosis/*diagnosis/*genetics
MH  - Humans
RF  - 80
EDAT- 1998/02/14 00:00
MHDA- 1998/02/14 00:01
CRDT- 1998/02/14 00:00
PHST- 1998/02/14 00:00 [pubmed]
PHST- 1998/02/14 00:01 [medline]
PHST- 1998/02/14 00:00 [entrez]
PST - ppublish
SO  - Semin Hematol. 1998 Jan;35(1):55-71.