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RUNX1

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10 years 2 weeks ago #51250 by lmayes
RUNX1 was created by lmayes
Can someone please explain RUNX1 in laymans terms? I was just diagnosed after 19 years of believing to just have ITP. What is next step as far as treatment for a 21 year old female? What should I expect with this new diagnosis?
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10 years 2 weeks ago #51251 by Ann
Replied by Ann on topic RUNX1
What exactly is the diagnosis. Is it a RUNX1 deficiency or a disease caused by a mutation? Having said that I only know what google can tell me and I expect you've done that already.
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10 years 2 weeks ago #51252 by lmayes
Replied by lmayes on topic RUNX1
It's "familial platelet disorder with predisposition to AML" and I googled my heart out but it gave me absolutely nothing that made any sense.
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10 years 2 weeks ago #51253 by Ann
Replied by Ann on topic RUNX1
Ah, so you are one of those with a familial thrombocytopenia misdiagnosed as ITP. We have seen a few of those here. Usually it's obvious when the person says that a family member or two also have low counts. So now they are just studying what the defects are. The best explanation I found in a respected journal is here..

www.bloodjournal.org/content/122/25/4004?sso-checked=true
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10 years 2 weeks ago #51256 by Aoi
Replied by Aoi on topic RUNX1
Sorry to hear about your diagnosis. Some useful information can be found in the OMIM database at

omim.org/entry/601399?search=runx1&highlight=runx1

This should provide a useful overview of the disorder, with lots of links to further research.