X-Linked Sideroblastic Anemia

[koyotekathy]

I wrote in an earlier post about Vitamin B6 (pyridoxine) being very helpful for my husband, Paul. Since that time, I have been searching the internet for more information. Yesterday I came up with a very helpful article, "Late-onset X-Linked Sideroblastic Anemia," presented by Phillip D. Cotter (Dept. of Human Genetics, Mount Sinai School of Medicine, NY; et al, ; published by Rapid Publication on the internet. Basically it states that while this form of anemia in the past has been principally found in the first 3 decades of life, they are now finding it in elderly people who have been diagnosed as RARS, but actually have XLSA and are responsive to Vitamin B6. Although in very rare occasions, persons who actually have RARS respond to Vita B6 partially and very rarely completely, those with XLSA may even have complete remission and have only a very small chance of progressing to leukemia. This all has to do with mutations of certain parts of DNA. The article urges those with a diagnosis of RARS to at least give vitamin B6 a try.

In the meantime, we are now going about having Paul reevaluated because of his very positive response to Vitamin B6, but also because of other possible faults in his original diagnosis. We really have to thank attending our first AAA/MDS conference two years ago in Denver for Paul even trying Vitamin B6 as an attendee there suggested Paul give it a try. In the meantime, you can bet we have our fingers and toes crossed!

[Neil Cuadra]

Dr. Cotter's article is available as a PDF file, size 1.6MB. That article was published in 1995 and was apparently based on results obtained in 1992 or earlier, so I'm sure there has been further research since then. The article describes two patients, one 77 and one 81 at the time, and concludes by suggesting that all elderly patients with microcytic sideroblastic anemia should be considered candidates for X-linked sideroblastic anemia (XLSA), especially if they have a good vitamin B6 (pyridoxine) response.

According to a 2003 report from doctors in Sendai, Japan (PDF, 52K) late-onset XLSA is extremely rare, with only 3 cases reported to date, at that time. So a good response to B6 is great news, while unlikely to be related to XLSA.

Is that your understanding too?

[koyotekathy]

We now have an appointment at the Center of Excellence at the University of Arizona on November 5 and you can believe I will be asking all of these questions. I'm hoping that I'm not getting our hopes up too high here, but at least Paul seems to fall in the category on the XLSA. No medical person here has been able to come up with any better explanation of why Paul is doing so well, except perhaps for the B6.

You may recall that we have been wondering about any relationship between Paul's DNA indicating he is an RA1A and his diagnosis. People with that DNA seem to be vulnerable to breast, ovarian and prostate cancer, among other forms of cancer. We have discussed this with Ruth at the conference. We don't have the foggiest idea if perhaps that doesn't have some application here. Interestingly, the National Geographic Genomic project emanates in part at least from the U of A.

I guess the bottom line here is that for some mysterious reason, Paul is doing quite well with his blood reports doing quite well and holding. Before the B6, it was definitely declining. The first three lettes of my name are K A T. Kats are always curious!