Transfusion medicine handbook

2. Collection, Testing and Processing of Blood Donation

2.7 Haemochromatosis

Genetic or hereditary haemochromatosis is mainly associated with a defect in the HFE (High Iron Fe) gene. HFE helps regulate the amount of iron absorbed from food.

There are two important mutations in HFE, namely C282Y and H63D, of which C282Y is the most important. When inherited from both parents, C282Y causes a variable increase in iron absorption which, if untreated, may lead to iron overload and organ dysfunction.

Management consists of lifelong monitoring, avoidance of an iron-rich diet and, depending on clinical phenotype, therapeutic venesection to deplete iron stores followed by maintenance venesection to prevent recurrence of iron overload.

Patients who are clinically well and meet all blood donor acceptance criteria may be enrolled as normal blood donors. NZBS checks the ferritin level periodically while iron depletion is in progress. Once stable iron-deplete levels are achieved, annual monitoring by the patient's general practitioner is recommended.