Haemochromatosis

Odysseus

Hi all, I'm try to find some accessable information on haemochromatosis, basically around the diagnosis and treatment of this disorder. I know it diagnosed through bloods but I seem stuff relating to levels and the like. Would anyone have a few mins to spare to explain the topic please. Cheers.

emmiou

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hemochromatosis

RobFowl

http://www.haemochromatosis-ir.com/

This is the link to the Irish haemachromatosis assosciation site

haemfire

Diagnosis
Initial FBC, high Hb
Iron studies(serum ferritin, TIBC, Iron)
Genetic test for haemochromotosis(PCR on HFE gene)

Treatment
Phlebotomy of 500ml every month(AFAIK) to get Haematocrit below certain level, can take up to 6 months
serum ferritin level monitored afterwards to see if further phlebotomy is required

Odysseus

Cheers guys thanks for the links, I'm trying to get info for my partner. She is ill at the moment so she wasn't thinking right when the doctor said it to her. She has to go for further bloods.

It was noticed on some routine bloods she had done recently. She was told that there was a count of 39 in relation to some level in her bloods and this indicated the above. For information perposes only I just trying to understand the condition, can any tell me what that level was, she was told that it should be 29.

As I said she was there for something else so she left without that info. As its just info I think we staying with the charter, any know what was been measured?

DrIndy

I think we are within the charter because she has been diagnosed by and is being investigated by a doctor - discussing the subject won't affect her management.

hmmmmmm - might be the ALT which is a liver enzyme - but double check this with the doctor. If it is initially off for no clear reason such as antibiotics, alcohol or other drugs, it prompts a doctor to check for other causes of liver disease such as haemachromatosis.

Haemachromatosis is remarkably common in ireland - there seems to be a big cluster in tipperary and monaghan of it.

The other good news with haemachromatosis is that the IBTS are starting to accept their blood for blood transfusions - I know they are planning to take it for the maintance phase of the disease (the units to keep the iron levels down) and they may be starting to accept it for the depletion phase of treatment (where they take a lot off - once per week at the start to get the iron stores down).

It really annoys haemachromatosis patients when they discover that the 100+ units sometimes taken off people ends up in the bin! Its something to ask about and look into. If I recall correctly - one of my patients had nearly 200 units taken over the course of her treatment and she was absolutely livid it was just thrown out.

Odysseus

Cheers thanks for that Dr Indy, its merely for info in order understand whats happening.

emmiou

The 39/29 could be Transferrin Saturation (TS).

TS is the ratio of two simple blood tests, which indicates iron accumulation. Serum iron is divided by total iron binding capacity (TIBC) to give the TS percentage. The test should be performed after an overnight fast. Normal average is 30% (slightly higher in men than women). Local biochemical testing methodologies will dictate what constitutes elevated transferrin saturation but a result of 45% would generally be accepted for genetic testing, particularly to facilitate early detection of iron overload.

littlebug

emmiou wrote: »

The 39/29 could be Transferrin Saturation (TS).

TS is the ratio of two simple blood tests, which indicates iron accumulation. Serum iron is divided by total iron binding capacity (TIBC) to give the TS percentage. The test should be performed after an overnight fast. Normal average is 30% (slightly higher in men than women). Local biochemical testing methodologies will dictate what constitutes elevated transferrin saturation but a result of 45% would generally be accepted for genetic testing, particularly to facilitate early detection of iron overload.

I just looked back over an old haemochromotosis thread on here and remember that I was tested about 3 years ago and my TS was 47%. Haemoglobin was also high. Cue much panic on my behalf but I was retested 3 months later and all was back to normal. I didn't get the gene test done. I was supposed to get it rechecked in a year but haven't bothered ... I really must
I hope your partner is ok OP. Waiting for results and wondering what's wrong is horrible

Vorsprung

Important to note though that unless you have conditions secondary to haemochomatosis, it is a perfectly treatable disease and the vast majority live a perfectly normal life.

marti8

Hi, I was told several years ago by a doctor that I probably had this! Then when I went back it turned out I hadn't, that the guidelines on assessing haemochromatosis had changed and I was under the level of whatever. Had the guidelines not changed, I would have had it.

From what I remember about the condition it basically means that someones blood is too rich or something. And that folks who do have it have to have blood either "removed" or "recycled" very frequently at a hospital (at least that was what I read)

Wiki can be a good starting point for more info (just remember that anyone can edit wiki so the info there may not be 100% kosher but generally it is)

Odysseus

Cheers for all the responses guys. There was also an articke in the health supplement of the indo on it today, but I haven't had the time to read it yet.