Thalassemia beta trait and elevated platelets

[nutter1234]

I was referred to a haematologist last year as the blood test results from my annual health screen came back with some abnormal results. I have thalassemia trait so my blood results are never normal but my GP noted that my platelets were elevated at 489. I looked back at some older blood tests and it appears that my platelets have been elevated since 2018, ranging from 434-489.

The haematologist ran a lot of tests and ordered an ultrasound of my spleen. The ultrasound came back normal and I tested negative to Jak2, he didn’t run tests against the other gene mutations. My platelets came down slightly to 437.

He has come to the conclusion that the elevated platelets are due to my thalassemia trait and is not something I should be concerned about. What I don’t understand is that I’ve had thalassemia trait my entire life and it’s only since 2018 that my platelets were elevated (although they have always been around 350 which he said is the high side of normal).

Should I get a second opinion? Is there anyone with Beta thalassemia trait who has elevated platelets?

[Dovme]

Hi

I also have Beta Thalassemia trait. Interesting but I don’t think that having thalassemia trait affects your platelets. None of my doctors has ever raised that as a concern ?

I would seek a second opinion. Try and contact the Thalassemia Society for advice?

ukts.org/

My platelets were at around 450 when l was referred to a haematologist after 6 months of elevation /observation

[hunter5582]

I expect Dovme knows more about this and would follow his advice.

I did get curious and found this citation regarding your question.

"Hypersplenism can contribute to anemia in individuals with beta thalassemia and cause low levels of white blood cells, increasing the risk of infection, and low levels of platelets, which can lead to prolonged bleeding. If untreated, additional complications can develop."

rarediseases.org/rare-disea....

I would add a few facts to your list of things to consider. No matter what the reference range on your labs is for platelets, the WHO considers 450 to be the top of the normal range. That is part of an ET diagnosis. Platelet levels can cycle by as much as 100K in a single day in response to events in your body (bleeding, injury, inflammation, etc.) Another cause for an increase in platelet levels is iron deficiency. There are other causes as well.

I would suggest consultation with a MPN Specialist if you see a pattern of platelet levels being in excess of 450. mpnforum.com/list-hem./

Please do let us know what you learn even if it that you are indeed negative for a MPN. We all benefit from learning more about blood conditions and when others experience.

[Dovme in reply to hunter5582]

Thanks Hunter just to clarify as it can be confusing the word trait simply means carrier of the gene. Being a beta thalassaemia carrier does not cause any symptoms its not the same as having the actual disease. No disease progression takes place. Beta Thalassemia itself identified as ( major/intermedia ) the two forms of the actual disease is a very serious condition.

It’s important in certain high prevalence countries ( Greece Cyprus Turkey Southern Italy) for carriers to know they have the beta thalassemia gene particularly if they decide to have children. A child produced by two carriers results in a 25% risk of a child being born with the thalassemia disease ( Major)

Carriers themselves like me have slightly smaller red blood cells. This causes problems as it is sometimes mistaken for iron deficiency anaemia and iron supplements are incorrectly prescribed. Beta Thalassaemia carriers should not take iron unless they need it. The iron level in the blood must be measured to see if iron intake is really needed. This was a problem when l was a child as doctors frequently prescribed iron not knowing about Thalassemia trait. As you know too much iron can be harmful

Interestingly, having a single genetic variant for thalassemia may protect against malaria and thus can be an advantage In addition people diagnosed with heterozygous (carrier) β-thalassemia have some protection against coronary heart disease

nhs.uk/conditions/thalassae...

[hunter5582 in reply to Dovme]

Thanks for that excellent explanation Dovme. The opportunity to learn more from each other is one of the things I love about this forum. I can see where having beta thalassemia or being even being a carrier could really complicate things when you also have a MPN. Figuring out the iron metabolism part would be even more important for someone with a MPN, particularly PV.

That really reinforces why it is so important to consult with a MPN Specialist. Thanks again for sharing your knowledge.

[Wyebird]

That tells me you should get a 2nd opinion - good luck x

[nutter1234]

Thanks for all the feedback. With thalassemia trait my bloods have never been normal (Haemoglobin always low, RBC always high) but until recently my platelet count has been in the normal range.

Do you think it is likely the doctors will look into this further if my platelets stay below 440? They were 489 in August 2020, then 434 in Oct and 437 in November 2020.

I'm not convinced the elevated platelets are due to my thalassemia trait and would like to be seen by another haematologist but if below 450 is considered within the normal range is it likely they will run further tests? My platelet count was 438 in 2019 and 471 in 2018.

Has anyone been diagnosed with ET with platelet counts at these levels?

[Gurimalla in reply to nutter1234]

Have you found out anything?

[Dovme]

I was diagnosed at 450. Over the next two years my platelets rose to 1200. I think you should speak to your GP explain your concerns and that you need reassurance. As others have also suggested ask for a second opinion preferably from an MPN specialist. Good luck.