HFE gene analysis

Chemical Pathology

Notes

Hereditary haemochromatosis (HH) is a very common inherited disorder of iron metabolism, characterised by inappropriately high absorption of iron, leading to excessive storage in the liver, skin, pancreas, heart, joints and testes.

Symptoms often begin after the age of 50, although early symptoms may be difficult to detect. Clinical heterogeneity exists even among members of the same family. Symptoms occur more frequently in males than females.

The most common form is caused by mutations in HFE gene and is known as type I HH.

The condition has an autosomal recessive mode of inheritance and depending on the population, 80-93% of individuals with type I HH are homozygous for the C282Y mutation, with almost all of the remainder being compound heterozygous for C282Y and H63D.

Clinical expression is variable and a significant proportion of individuals with these genotypes do not develop the condition.

Referrals for HFE testing require clear demonstration of the following criteria:-

• Confirmatory diagnostic testing: all adult patients of north European ancestry with unexplained raised serum ferritin and random transferrin saturation (>50% males or >40% females) and normal full blood count
• Carrier/predictive testing: carrier/predictive testing can be offered for at risk adult relatives of individuals with known HFE mutations

All samples should be accompanied by a request form which can be downloaded from the Exeter Genetics Laboratory Webpage.

Sample requirements

For adults only (>18years of age) , 4 mL of blood taken into an EDTA tube

Storage/transport

Send at ambient temperature to the laboratory. If unavoidable, samples can be stored refrigerated overnight.

Required information

Relevant clinical details, including details of any family history of haemochromatosis. Recent transferrin saturation and ferritin results.

Please also complete the request form which can be found here to accompany all samples for HFE gene analysis.

Turnaround times

Samples are sent for analysis to the South West Genomic Laboratory Hub for analysis

Reference ranges

Qualitative report with interpretive comments provided.

Further information

To learn more about haemochromatosis visit Lab Tests Online

Page last updated: 27/02/2022