Hemochromatotis??? Can anyone provide insight into blood test results:

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My Father has been diagnosed with Hemochromatotis and is in ill health. I have just had genetic testing & over phone advised I am normal. Though, these are the results: Heterozygous for C282Y / H63D mutation not detected. I don't think these results were reviewed alongside blood tests (taken few months prior). For quite some time I have been experiencing sysmtoms such as: fatigue, aches in limbs, brain fog, anxiety, headaches, dizziness etc. My last bloods (October) as follows: 

UREA 2.1mmol/L (low) / [3.0-8.0]

BILIRUBIN 40umol/L (high) / <20

PLATELETS MPV 12 fL(high) / (6-10)

FERRITIN 31ug/L (low) / (30-300)

TRANSFERRIN SATURATION 45% (high) / (13-45%)

NOTE: August - TRANSFERRIN SATURATION high at 56% 

and low B12 & Vit.D 

I am still feeling quite off & find it hard to function, at times. I am planning on following up. Can anyone shed any 'light' in relation to my results. I was told I had low iron; however, due to the high saturation - I am questionable as none of the above was really outlined or seemed a concern? Thank you. Look forward to your guidance! 

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  • Posted

    You need to get your kidney/liver tested your results indicate you could have impaired function and from those test results i can understand why you are having the symptoms you have.

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