← Return to JAK2 Mutation, Low Iron and High Platelet count

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@helen2209

Hi, ı am a patient who does have a MF/MDS overlap with JAk2 and SBF31 mutations, ı was initially diagnosed with Primary MF but after genetic testing the SBF31 mutation made the change in diagnosis to the MDS overlap. I was diagnosed 12 yrs ago and initially started out with monthly bloodtests and Hydrea as med. Then 3 months check ups and bloodtests (CBC) followed, with once yearly bone marrow aspiration. My platelets were always high end of normal or slightly too high. I developed an enlarged spleen, . About 5 years ago ı developed Anemia and started out on Jakafi, it got worse and ı became transfusion dependant.A bone marrow aspiration showed complete fibrotic marrow The Jakafi was adjusted and a weekly Procrit shot made me fransfusion independent again. I have now weekly CBC blood draws, but ı am now in a high risk category of the disease. You are the first SBF31 mutated patient ı heard off. Be positive and although my platelets are still slightly higher than normal ı only take the 80 mg asperin daily. I feel ok and have minimum discomfort.

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Replies to "Hi, ı am a patient who does have a MF/MDS overlap with JAk2 and SBF31 mutations,..."

My doctors at Sloan said they’ll do another bone marrow procedure when my blood work indicates it’s necessary. I had my first BM over two years ago and my major symptom was a high platelet count so they put me on to reduce the platelet count. My blood counts are now in or close to the normal range so I now go every three months for blood work.

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