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Prevalence of haemochromatosis amongst asymptomatic Australians | JoVE Visualize

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Prevalence of haemochromatosis amongst asymptomatic Australians

B A Leggett¹, J W Halliday, N N Brown

¹Department of Medicine, University of Queensland, Brisbane, Australia.

British Journal of Haematology|April 1, 1990

View abstract on PubMed

Summary

The prevalence of iron overload due to hereditary haemochromatosis is approximately 1:300 in asymptomatic Australians. This condition, affecting males and females equally, warrants inclusion in adult health screening programs.

Area of Science:

Medical Research
Genetics
Public Health

Background:

Hereditary haemochromatosis is an autosomal recessive disorder.
Iron overload can lead to significant health complications.
Prevalence data in asymptomatic Australian populations is limited.

Purpose of the Study:

To determine the prevalence of iron overload due to homozygous haemochromatosis in an asymptomatic Australian population.
To assess the effectiveness of screening methods for identifying individuals with iron overload.
To evaluate the equal expression of the disease in both sexes.

Main Methods:

Survey of 1968 employees from two large corporations.
Screening using transferrin saturation and serum ferritin concentration.
Percutaneous liver biopsy for confirmation in subjects with elevated indices.

Main Results:

Prevalence of iron overload due to haemochromatosis was 0.36% (approximately 1:300).
No significant difference in prevalence between males and females.
Positive predictive value of transferrin saturation >45% and elevated ferritin was 64%.

Conclusions:

The prevalence of treatable iron overload from homozygous haemochromatosis is significant in this population.
Transferrin saturation should be incorporated into adult health screening.
The disease appears equally expressed in both sexes with adequate iron intake.

Aboriginal And Torres Strait Islander Sciences

Aboriginal And Torres Strait Islander Genomics

Prevalence Of Haemochromatosis Amongst Asymptomatic Australians