What constitutes a diagnosis

[Curious123]

Hi all, Could you please advise what formally constitutes a diagnosis of Haemochromatosis? I have tested positive homozygous HFE:c. 187C>G (His63Ap).

I have historically had iron deficiency requiring iron infusions, however for other medical reasons my periods have been basically stopped.

My ferritin wasn’t dripping after the last iron infusion but has now started bouncing around between 250-350.

At what point were you diagnosed and have you had any treatment beyond monitoring with these levels? Does your GP monitor things, a haematologist or a gastroenterologist? Cheers!

[radd]

Curious123

There are several types of haemochromatosis but type 1 is the most common (aka herediary/genetic) when there is a variation to the HFE gene on chromosome 6, usually involving C282Y and H63D alleles. (HFE comes from iron’s chemical symbol FE with and H for high in front. Alleles are a form of gene that has a slightly different DNA sequence. Think hair colour, height, etc.)

Homozygous gene refers to two mutations of the same allele (1 copy from each parent).

Heterozgous gene means there is one mutation of an allele (from either parent if unknown).

Compound heterozygote means you have two different heterozygous mutations simultaneous (one copy from two different genes). The severity of symptoms is related to which type of gene mutation is present.

Your ferritin is not high in terms of haemochromotosis. Some aren't diagnosed until ferritin levels are in the 1000's. My diagnosis came with the genetic test after constantly elevated ferritin and transferrin saturation. I have venesection several times a year to keep both at around 50 and am monitored by a hemo consultant who checks my blood tests taken by my GP.

T'is a pain because not only does venesection take the surplus iron but hard earned vitamins, nutrients and thyroid hormones. I would say it is unlikely you have haemochromotosis if you have required iron transfusions in the past. Have you had a full iron panel taken recently?

[Curious123 in reply to radd]

Hi radd, thank you for your reply. Because females effectively blood let each month, diagnosis of Haemochromatosis usually comes later once periods are stopped, usually after menopause. Now we have dealt with my PA and heavy periods, the iron levels are starting to show.

I am Homozygous H63D and have had iron saturation’s of 69%, 63% and 51% in 2020. My periods haven’t completely been stopped so there is still effectively some blood letting each month and I think when I exercise more there is more destruction of red blood cells which helps things.

But I have had some extreme fatigue in 2020, especially when TSAT was 69% and 63% and at that point I also went hyperthyroid. Will be interesting to discuss with a medical professional who fully understands the complexity of this. Apparently having pernicious anaemia changes the picture of things also. 🤷🏼‍♀️

[radd in reply to Curious123]

Curious123,

Yes, I wasn’t diagnosed until menopause and most women aren’t.

Many think the genetic result alone will guarantee a diagnosis but there are so many variants and the impact can be wide. A few with haemochromatosis don’t even have a mutation in the HFE gene but in other genes.

However, homozygous H63D with climbing iron loads should definitely be monitored, and I agree your PA could be masking the manifestations of haemochromatosis. If you are in the UK ask your GP for a referral to a hemo. Some GP’s either haven’t heard of haemochromatosis or don’t know how it is treated. You might have to present some literature as I did.

Although slowly becoming more widely recognised many hospitals still aren’t well set up to accommodate haemochromatosis clinics. I used to have venesection in with the kidney dialysis patients but now have been pushed over to the oncology clinic 😳.