Haemachromatosis?

[Shanders]

Hello. Just had most recent set of blood results and appointment with Haematologist today. Everything seemed to be normal re platelets, neutrophils, haemoglobin, folate levels etc. except for an abnormal rise in my iron levels.

The consultant asked if I had a family history of Haemochromatosis, which I hadn’t even heard of until he said it so the response was “Not that I am aware of”…..so this will be getting tested for ahead of my next appointment in 8 weeks.

Having only just heard about the condition today and doing some googling, I recognise symptoms like severe fatigue and brain fog (which could be the ET and/or Hydroxy also) but also joint pain in my fingers and hands, and my family has a history of developing diabetes in later life.

My question is whether anyone is aware of the development of Haemochromatosis as a result of MPNs/ET or Hydroxy or whether the spike in iron levels is a potential side effect of the ET and/or Hydroxy unrelated to Haemochromatosis?

[Dodders]

Hi, I'm doubtful this will be of help but as I was told my ferritin/iron was high over a year ago you may find something of interest in my reply. I am post SCT and approaching five years since transplant. When first told about my high iron levels it was put down to the numerous blood transfusions I'd had. So, I had about 12 venesections in all to reduce the iron but it did not drop as much as expected, and is still too high. Haematomachrosis was then suggested, although treatment is the same. I was tested and it was negative. I've had several more venesections but they have been paused due to severe fatigue, and slight anemia. I am now trying to get an appointment with a consultant as this issue as gone on now for nearly 18 months and, whilst I have great respect for the CNSs who have been overseeing my late effect clinics I think I need to see a consultant now having not seen one for over 2 years. Good luck

[JULS65]

Hi, your doc would be asking about family history as Haemachromatosis is an inherited recessive genetic disorder causing the body to store excess iron, not a condition you would develop. Recessive meaning you need two copies of the “dodgy” gene, one from each of your parents. I treated patients with genetic Haemachromatosis for many years, before I retired, and had a patient who had ET and that’s when they also found she had Haemachromatosis. The best website for reading about and understanding Haemachromatosis is called Haemachromatosis.org. You’ll be surprised just how many people either carriers or have this condition and are completely unaware of it. Hopefully you’ll get answers at your next appointment.