hemochromatosis

[mrcharly-YHT]

erm, my mum has just been diagnosed with advanced hemochromatosis (excessive iron).

This could be a result of the extensive blood transfusions she's received, or it could the hereditary disease, so apparently I should be screened.  I know I have fairly high iron levels, the nurse commented on it last time I donated blood.

Wouldn't this be picked up in normal blood tests?  I've had those, to check for the usual cholesterol etc.

[hellymedic]

It would not be detected in 'normal blood tests'.

Normal blood tests: (an elastic concept IMO)

Full blood count:
Determines number and size of red blood cells, white blood cells, platelets and the level of haemoglobin in grams per litre/decilitre. (There are various derivative values which can be determined from the numbers, such as mean corpuscular volume or mean corpuscular haemoglobin concentration.

Urea and electrolytes:
Determines level of sodium, potassium, urea, possibly chloride, possibly creatinine in the blood.
Helps check basic kidney function and essential mineral levels.

Blood glucose: sugar levels

Anything else may be considered an 'extra' and really only a full blood count may be done

Next round of routine-ish blood tests:

LFTs: Liver function tests - enzyme levels of substances mainly made in the liver:
GGT
AST
ALP
Bilirubin

'Bone group'
Calcium
Phosphate
Magnesium (sometimes)
Alkaline phosphatase

Iron - this will be raised in haemochromatosis.
Serum iron + total iron binding capacity

It is worth testing for this condition which can cause liver damage and diabetes. It may be known as 'bronze diabetes' due to characteristic skin discolouration.

Haemochromatosis can be treated by regular blood letting; unfortunately such blood cannot be used for transfusion. Other treatment includes chelating agents to reduce iron levels.

[mrcharly-YHT]

poo.

I shall speak to the doc about getting tested, then.

[caerau]

I just found out my sister has hereditary haemochromatosis - off to get a test for myself then.


She's had since about 1986 it seems - our family doctor recognised she had very high iron levels back then but no doctor has ever believed her when she's mentioned this since - was it even a recognised condition then?
It explains many conditions she's had since then - and we all thought she was a hypochondriac moaning about joint pains all the time etc. 


She is a recently diagnosed diabetic, I wonder if this is how she got it.