Not a Jak2 mutation PV

[Sam000]

Hi there - my dad has discovered he has PV. Coincidently so does my grandma, and her three sisters! My grandma and her sisters can't tell us what type they have although it can't be secondary as they have had it for 30 years plus! At the time they were all diognosed it was simply a case of them having a high haemaglobin concentration and they all have blood taken every two or three months to keep it down. They lead very normal

Healthy lives and so it's never been discussed.

My dads tests for jak2 mutation came Back negative so he may have to have a bone marrow test to discover the cause?

Anyone else experienced this? If there isn't a jak2 mutation, and there is no other underlying cause, what are the other causes?

I know there are current studies for genetic links which we are keen to help with so we are trying to find out if my grandma and her sisters have the jak2 mutation. All very complicated!

Thanks! 👍

[idi75]

Hi, I have JAK2 negative Polycythaemia. My haematologist tested me twice for all the known mutations, all came back negative. After initially suspecting PV he now describes my condition as Secondary Polycythaemia - cause unknown. I have a full blood count every 4 months and my PCV (packed cell volume) level is controlled under 0.45 by venesection when needed. This has gradually stretched to once every 9 - 12 months. I have a very low ferritin level (11) which probably accounts for a certain amount of fatigue. He says it's the low ferritin level that slows the red blood cell increases and shouldn't be increased.

There are other even rarer hereditary causes but I understand the treatment, if any, is usually venesection so there is little point in persuing further expensive investigations unless the venesections stop controlling the red cell increases. My haematologist will only consider doing a bone marrow biopsy if the venesections stop working or there are other adverse changes in my blood counts or my health.

Both my mother and grandmother lived till they were 83, but did latterly suffer from mini strokes and died from blood clot related conditions. It is possible they may have had Polycythaemia too but it was a condition that was not widely recognised then.

I'm 79 and have only known about my Polycythaemia for 4 years. All the time the PCV is satisfactorily controlled I'm happy to accept that I almost certainly don't have a 'true' MPN and just keep a check on my blood counts in case the situation changes.

Every patient is different and many suffer no side effects and a shortened life is happily rare. A good haematologist will watch for any changes and treat your father accordingly, whether it is an MPN or is caused by some, as yet, unidentified secondary cause. I hope your wider family investigations confirm no gene mutations and your dad continues to feel fit and well.