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Old Tue Dec 29, 2015, 11:48 AM
Neil Cuadra Neil Cuadra is offline
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Join Date: Jul 2006
Location: Los Angeles, California
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Juan,

You can find a Spanish introduction to bone marrow disease and MDS at http://www.mds-foundation.org/wp-con...sh_Low-Res.pdf. There are more details at http://www.mds-foundation.org/international-handbooks but not in Spanish.

You are correct that del(5q) and del(20q) are both favorable cytogenetics for MDS patients. See the calculator at http://www.mds-foundation.org/ipss-r-calculator/.

This article from 2006 reports that
del(20q), is a common cytogenetic abnormality in various myeloid disorders and is known to be a favorable prognostic factor in myelodysplastic syndromes (MDS) when it is the sole change. However, del(20q) occurs with one or more cytogenetic changes when it is associated with disease progression.
This more recent article reports the same thing but neither mentions del(5q) specifically.

I suspect that there are other patients with del(5q) and del(20q) but I didn't find any articles about these two mutations in combination. When doctors refer to "5q- syndrome" it's for del(5q) in isolation. Does your father have any other abnormalities as well? This article says
5q deletion can be seen with other accompanying abnormalities. Review of the recent Mayo Clinic cases shows that major abnormalities include -7, +8, -20, 20q-, -13/13q-, and abnormalities in 12p, in the descending order.
Eprex can help your father maintain his hemoglobin. I'm surprised that he needs Exjade if he has only infrequent transfusions, but his doctor probably knows best. (I'm a caregiver, not a doctor.)

These drugs aren't curative and are treating only the symptoms. The doctors may not want to do anything more aggressive as long as he's stable.
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