Streamlining the detection of hereditary haemochromatosis

Article by Professor John Olynyk

Hereditary haemochromatosis or HFE is an autosomal recessive disorder of iron overload and is one of the most common genetic disorders in populations of Northern European descent with a prevalence of 1 in 200 persons.

It is most often brought to the attention of clinicians through a positive family history for the disease, elevated iron studies or typical genetic test results.

New Australian research has demonstrated that the commonest blood test ordered in Australia (the Full Blood Count – FBC) may also reveal otherwise unsuspected hereditary haemochromatosis(1).

This recent Australian study demonstrates that elevated mean cell volume (MCV) and mean cell haemoglobin (MCH) values are present in treated, untreated and asymptomatic young adult hereditary haemochromatosis subjects. Subjects of Northern European ancestry with MCV > 94 fl or MCH > 32.2 pg are at 30-fold enriched prevalence compared to the general population – the same order of magnitude of enrichment for discovery of the condition as seen within families of known hereditary haemochromatosis subjects. Up to 62 per cent of all hereditary haemochromatosis subjects in Australia are present above these cut?off values. Such individuals should be considered for further assessment of hereditary haemochromatosis.

For more information including assessing and managing patients with suspected or confirmed hereditary haemochromatosis see the ‘Hereditary Haemochromatosis’ HealthPathway.

About the Author:

Professor John Olynyk is the Head of Gastroenterology at Fiona Stanley Fremantle Hospital Group.

References:

1 Adris N, Hazeldine S, Bentley P, Trinder D, Chua ACG, Powell L, Ramm LE, Ramm G, Olynyk JK. Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. Blood Cells Mol Dis. 2018;74:18-24.

Article by Professor John Olynyk

Hereditary haemochromatosis or HFE is an autosomal recessive disorder of iron overload and is one of the most common genetic disorders in populations of Northern European descent with a prevalence of 1 in 200 persons.

It is most often brought to the attention of clinicians through a positive family history for the disease, elevated iron studies or typical genetic test results.

New Australian research has demonstrated that the commonest blood test ordered in Australia (the Full Blood Count – FBC) may also reveal otherwise unsuspected hereditary haemochromatosis(1).

This recent Australian study demonstrates that elevated mean cell volume (MCV) and mean cell haemoglobin (MCH) values are present in treated, untreated and asymptomatic young adult hereditary haemochromatosis subjects. Subjects of Northern European ancestry with MCV > 94 fl or MCH > 32.2 pg are at 30-fold enriched prevalence compared to the general population – the same order of magnitude of enrichment for discovery of the condition as seen within families of known hereditary haemochromatosis subjects. Up to 62 per cent of all hereditary haemochromatosis subjects in Australia are present above these cut?off values. Such individuals should be considered for further assessment of hereditary haemochromatosis.

For more information including assessing and managing patients with suspected or confirmed hereditary haemochromatosis see the ‘Hereditary Haemochromatosis’ HealthPathway.

About the Author:

Professor John Olynyk is the Head of Gastroenterology at Fiona Stanley Fremantle Hospital Group.

References:

1 Adris N, Hazeldine S, Bentley P, Trinder D, Chua ACG, Powell L, Ramm LE, Ramm G, Olynyk JK. Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests. Blood Cells Mol Dis. 2018;74:18-24.

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