Haemochromatosis is a hereditary condition in which excessive amounts of iron are absorbed by the body. If the condition is detected too late or if it is left untreated, it can cause serious damage to various organs, including the liver, heart and pancreas. Depending on the location in which the iron is stored, conditions such as liver cirrhosis, cardiac arrhythmias, or diabetes may develop. Patients often suffer from chronic fatigue, joint problems, and abdominal disorders.

Bloodletting

This treatment focuses on removing excess iron from the body and consists of two stages: lowering the concentration of iron to an acceptable level (initial stage) and then maintaining these iron levels (maintenance stage). The standard method is phlebotomy or bloodletting, in which half a litre of blood is taken from patients every week during the initial stage of the disease. In the maintenance stage, blood is taken several times a year for the rest of the patient’s life. However, some patients experience side-effects such as fatigue and fainting. Approximately one in eight people consider stopping treatment by phlebotomy; a more patient-friendly alternative is therefore needed.

Red blood cells

Rombout examined the effectiveness and efficiency of a method called erythrocytapheresis. Put simply, this means selectively withdrawing the red blood cells using special apheresis equipment. This is an alternative for phlebotomy, but one which is still only rarely used. Rombout’s study showed, among other things, that this technique reduces the number of treatments needed by 57% in the initial stage and by 42% in the maintenance stage. Patients therefore do not have to go to hospital or Sanquin (blood bank) as often as before. This could result in a reduction in total treatment costs and less burden on patients.

Serious alternative

In the end, the majority of patients (81%) said they would rather undergo erythrocytapheresis than phlebotomy. as the small number of treatments and their greater effectiveness resulted in a better general feeling of well-being. ‘The emphasis is on the patient, and their choice of treatment must guide us’, said Rombout. ‘With this doctoral research, we have shown that selectively withdrawing red blood cells using apharesis equipment is an effective treatment method and must be regarded as a serious alternative to phlebotomy, particularly in the initial stage of the condition.’

Eva Rombout was awarded her PhD on 8 December at Maastricht University  with her thesis: ‘Erythrocytapheresis, a treatment modality in hereditary hemochromatosis’.