MDS/MPN overlap with SF3B1 mutation – seeking shared experiences & guidance

Title: New to Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasms (MPN) overlap – looking for shared journeys

Hello everyone,

I’m new here and joining on behalf of a close family member who has been diagnosed In Dec’2025 with a rare Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasms (MPN) overlap condition with an SF3B1 + SF3B1-T mutation.

Her predominant feature has been thrombocytosis, with progressive macrocytic anemia. She was started on Hydroxyurea, which has helped bring platelet counts down from 7.8 to 5.2, but her hemoglobin has fallen to ~8.9 leaving her extremely tired with muscle spasms and pain in the back, mouth sores, Fever and reduced energy.

It’s been a lot to absorb. We’re learning as we go and trying to support her physically and emotionally.

We are under the care of a hematologist and understand that every case is unique.

If anyone here has lived with:

  • Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasms (MPN) overlap

  • SF3B1 mutation

  • Anemia that worsened during treatment

  • Experience balancing Hydroxyurea with worsening anemia

  • Dealt with muscle pain, fatigue, day to day challenges or quality-of-life issues

  • Navigated long-term management of this condition

Any insights on what helped, what to watch for, or questions we should be asking the care team would be invaluable.

I would really appreciate hearing your story — what helped you cope, what gave you hope, and what you wish you had known earlier.

Thank you for being here and for any support you’re willing to share.

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Hello there @Papu . So sorry to hear of your family member’s diagnosis. I do not personally have that rare disease type but I know of people who have.

Hydroxyurea is effective at reducing high cell counts eg white cells and platelets but the casualty is often a drastic lowering of haemoglobin with associated crippling fatigue. With an Hb count that low, your relative needs to be asking for supportive care to increase the Hb levels. This might be blood transfusions or EPO to stimulate red blood cell production. This is an important quality of life intervention as having persistently low Hb levels not only causes fatigue but puts a strain on the heart. Sadly, a drug called Luspatercept is used in the US and Europe to treat exactly this disease with good success rates but the manufacturers have not submitted it to NICE for approval so it is not available under the NHS in the UK.

Suggest your relative does not simply put up with the fatigue but ask her clinical team urgently to consider other supportive treatments to relieve the fatigue and improve her Hb count.

Hope this helps. Sorry if this is a bit direct but i have had a type of Myelodysplastic syndrome (Myelodysplastic syndrome (MDS))/Myeloproliferative neoplasms (Myeloproliferative neoplasms (MPN)) overlap disease (Chronic myelomonocytic leukaemia (Chronic myelomonocytic leukaemia (CMML))) for over 17 years and I have learned that you may have to be assertive in getting the care you need!

I wish your relative well in getting the support she needs.

Incidentally, Leukaemia Care are shortly going to produce a booklet, factsheet and website information on Myelodysplastic syndrome (Myelodysplastic syndrome (MDS))/MPNs. I know because I reviewed it! Keep a lookout on their website and I’ll try to remember to post the links on this forum when they are published.

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Thank you so much for your thoughtful response. Very precise and helpful.

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Hi @Papu

Welcome to the forum, and thank you for reaching out on behalf of your family member. I can only imagine this has been a really overwhelming time for you all.

@ChrissyD has given you some excellent, practical advice based on lived experience, so I’d like to tag in our Blood Cancer UK nurses who may be able to offer some additional clinical perspective on Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasms (MPN) overlap conditions and the specific challenges your family member is facing with the treatment balance.

@BloodCancerUK_Nurses - would you be able to offer any guidance? Particularly around what questions Papu and their family member might ask the care team about managing the worsening anaemia alongside the Hydroxyurea treatment, and what supportive options might be available?

In the meantime, if you’d like to talk things through with our support team, they’re available on 0808 2080 888 or support@bloodcancer.org.uk.

Take care,

Ceri - Blood Cancer UK Support Services

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Thank you very much for your kind support and way forward. Look forward to hearing from the nursing community who ate also in the frontline facing these issues of patients.

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Hello Papu, I was diagnosed with Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasms (MPN) overlap -U 5 years ago. I have been treated with hydroxycarbamide to lower my platelet count and a weekly injection of Aranesp ( EPO ) to help with my haemoglobin. This has worked well until recently, but now my haemoglobin is struggling and this week, I am going on to lenalidomide - am a bit apprehensive but trust my haematologist. I wiill be very intersted to see the booklet mentioned by Chrissy. . .I wish you and your relative well. Kate.

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Thank you for sharing. Wishing all goes well with the new treatment.

Ramana Prasad

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@KateS

Hi Sorry to ask this but in your discussion about lenalidomide, did your clinician talk about potential risk and benefits (e.g. of lenalidomide). It is in the British Society for haematology guidelines that careful discussion with patients should take place in order that the patient can make an informed choice. Here are the BSH guidelines - now needing an update I fear. You’ll need to look under the Del 5q section.

https://onlinelibrary.wiley.com/doi/10.1111/bjh.17612

I hope this helps.

Best wishes

Chrissy

Dear @Papu

Welcome to our forum and thank you for posting. I am sorry to read about your family member’s diagnosis and the debilitating symptoms they are experiencing. It is understandably a very challenging and worrying time for you all.

Like @ChrissyD has already mentioned whilst Hydroxyurea is very good at reducing high cell counts, it can also have a negative impact on the other blood cells. It is important to inform your family members health care team about the side effects they are experiencing so that they can best support her.

There are options that can be explored including reducing the dosage of Hydroxyurea (if safe to do so in consultation with the team), supportive medications such a EPO which can help stimulate red cell production. In some cases a blood transfusion may be suggested to help with symptoms. I have also enclosed our information on fatigue which has lots of useful tips and advice about managing fatigue which you might find helpful Fatigue

If it would be helpful to talk things through in more detail, or we can support you or your family in any other way, please do not hesitant to call our free haematology nursing support line on 0808 2080 888. Our lines are open until 7pm this evening and from 10 am tomorrow.

Take care

Fiona (support services nurse)

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Thanks Fiona

I will read the link on Fatigue and discuss with my relative on Fatigue management.

Once again thanks for your kind words and for the lovely support.

Kindly regards

Ramana Prasad

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Hi @Papu and @KateS

As promised here is the link to the new factsheet and webpage on Leukaemia Care’s new website. Hope it helps.

https://www.leukaemiacare.org.uk/about-leukaemia/types/myelodysplasticmyeloproliferative-neoplasms-mdsmpns/

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@ChrissyD thank you very much for the article. This is very helpful.

We consulted two Doctors from Mayo and they adviced to focus on “treating anemia” primarily.

We are moving in this direction, but platlet counts are on the rise since Hydrea was stopped.

But the good news is Hemoglobin has started to recover on its own.

thanks once again

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