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Old Wed Jan 13, 2021, 01:55 AM
quantpsyc quantpsyc is offline
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Join Date: May 2017
Location: Leland, NC
Posts: 24
Heredity

David, the latest version of the NGS chromosome mutation panel tests for a gene mutation in ddx41. Not alot of literature but there but it popped on my husbands POST transplant panel (was not included in the pre transplant panels!!) It appears to be associated with a hereditary form...and in my reading it seemed that there were different blood disorders within families. Look it up. P.S. My husband was an only child and only a couple of cousins. Only after her death last year did I discover his Mom had a bone marrow biopsy in her 60s and was treated for sideroblastic anemia. By the time Ed got sick her memory was pretty shot (90 years old) ...she never mentioned it.
Gosh!!
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Kathleen, adoring wife of Ed 67 yo, Dx April 2017 MDS RAEB2, no chromosomal mutations, as of August 2017 only supplement therapy, living and loving each day.
October 2018 started Decitabine, "exceptional response", MUD HSCT May 7, 2019.
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