Imperial Collage Healthcare

Haemachromatosis gene screen


Test Background
Hereditary haemochromatosis is an autosomal recessive disease with estimated prevalence in the population of 2 in 1,000 in Caucasians, and lower incidence in other races. Hereditary haemochromatosis is characterised by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues, that typically begins to be expressed in the third to fifth decades of life, but may also occur in children. Because of the severe sequelae of this disease if left untreated, and recognising that treatment is relatively simple (ie. phlebotomy and/or chelation therapy), early diagnosis before symptoms or signs appear is important.


Clinical Indications
The most common presentation is hepatic cirrhosis in combination with hypopituitarism, cardiomyopathy, diabetes, arthritis or hyperpigmentation.
Also increased transferrin saturation of >50 % (see iron studies).


Sample Required
4 mL EDTA (lavender top)


Sample Volume
3 mL


Turnaround Time
14-28 days


Notes
Genetic counselling may be indicated.
Not currently performed in house; this test is referred to the North West Thames Regional Genetics Service.

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