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A study was carried out to determine the usefulness of erythrocyte ferritin analysis in identifying homozygotes and heterozygotes in families affected with hereditary hemochromatosis, an autosomal recessive disorder. To select the subjects the genotypes of 60 people from 26 affected families were determined by HLA-A and HLA-B haplotyping. In addition, data for 12 homozygotes for whom erythrocyte ferritin values were available from the literature were included. Likelihood analysis was used to evaluate the diagnostic value of erythrocyte ferritin analysis alone and in combination with serum ferritin testing. An erythrocyte ferritin value of 150 ag/cell or higher combined with a serum ferritin level above the 90th percentile indicated homozygosity, whereas a value of less than 150 ag/cell and a serum ferritin level at or below the 90th percentile indicated that homozygosity could be ruled out with a high degree of confidence. The probability of heterozygosity rose to 92% when the erythrocyte ferritin value was between 29 and 149 ag/cell and to 98% when this result was combined with a serum ferritin level at or below the 90th percentile. Erythrocyte ferritin analysis in combination with serum ferritin testing is useful for identifying homozygotes and a proportion of heterozygotes in families affected with hemochromatosis.
M K Cruickshank, and
J Ninness, and
A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
February 1989,
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M K Cruickshank, and
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A Curtis, and
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P R Flanagan, and
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L S Valberg
January 1992,
Gematologiia i transfuziologiia,
M K Cruickshank, and
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A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
March 1997,
Biulleten' eksperimental'noi biologii i meditsiny,
M K Cruickshank, and
J Ninness, and
A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
January 1996,
Blood cells, molecules & diseases,
M K Cruickshank, and
J Ninness, and
A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
December 2007,
Praxis,
M K Cruickshank, and
J Ninness, and
A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
July 2021,
Genes,
M K Cruickshank, and
J Ninness, and
A Curtis, and
R M Barr, and
P R Flanagan, and
C N Ghent, and
L S Valberg
August 1991,
Gastroenterology,
M K Cruickshank, and
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A Curtis, and
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C N Ghent, and
L S Valberg
January 1982,
Medical decision making : an international journal of the Society for Medical Decision Making,
M K Cruickshank, and
J Ninness, and
A Curtis, and
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C N Ghent, and
L S Valberg
January 2003,
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru,
M K Cruickshank, and
J Ninness, and
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C N Ghent, and
L S Valberg
May 2003,
MedGenMed : Medscape general medicine,
