The results for the three different mutations of HFE gene are in. I don’t have any of these. Which excludes the vast majority of the diagnoses for hereditary haemochromatosis. The footnote from the lab suggests contacting the centre for rare iron related disease in the big university hospital 150 km away. They may just talk with me as an ex-boffin.

I do feel a tad rusty these days, like the tin man my joints could use some oiling.

That means the polycythaemia primary or secondary question is in focus. Is there a malignancy or did my blood just adapt to smoking tabs?

My parathyroid hormone (PTH) is low, it is 26 pg / mL.

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“The iPTH reference interval of a healthy blood donor population was measured as 25.2–109.1 pg/mL (2.7–11.6 pmol/L) at 2.5 and 97.5 distribution percentile. The iPTH reference interval from data stored in the laboratory database was 19.3–112.5 pg/mL (2.0–11.9 pmol/L). Furthermore, 60% of the whole population had prevalently insufficient vitamin D concentration (<30 ng/dL; <75 nmol/L).

Mineri et al., Clinica Chimica Acta Volume 521, October 2021, Pages 1-8.”

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So it is at the rare end of a distribution yet just within the 2.5-97.5 percentile range. It is probably within experimental error out of the range. The error bars on 26 picograms must be big in a small sample!!

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“PTH is secreted primarily by the chief cells of the parathyroid glands. The gene for PTH is located on chromosome 11. It is a polypeptide containing 84 amino acids, which is a prohormone. It has a molecular mass around 9500 Da”

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My results for Calcium and Phosphorus were very normal, this latter statement is a bit weird. Low PTH levels are very rare and usually come with low Calcium levels. That pathway is messed up. Low parathyroid hormone screws with the Calcium concentration and bone turnover.

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Symptoms of hypoparathyroidism

Hypoparathyroidism often starts if glands in your neck are damaged during surgery.

Symptoms include:

• a tingling or burning sensation in your fingers, toes and face
• muscle pain, stiffness and spasms

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I have these two but these are caused when Calcium is too low!! So I do not have hypoparathyroidism.

We have another “contradiction” of sorts so the GP has asked advice from an endocrinologist. My guess would be re-test and if the value is still low maybe do something.

I am going to have an Alpha 1 Antitrypsin assay tomorrow which may add a piece to the jigsaw puzzle, concerning my lungs.

I’ll wait to hear from the GP as to what the endocrinologist suggests. It could be more tests, or not.

On the GP front we are probably good until September now…fingers crossed…

The working notion is that whatever it is that may be going on, it is just not manifesting in a sufficiently serious way, yet…

It could just go away or it could develop.

I am a bit of an anomaly, so it is no surprise that my blood results are a tad skewed from the normal.