What idiopathic disorders can present with anemia and thrombocytosis
March 25, 2012 4:14 PM   Subscribe

Unusual disease filter: What idiopathic disorders can present with anemia and thrombocytosis?

This is not a health question. I do have either of these conditions, nor do I know anybody who does (well, not together at any rate). Rather, this question arises from reading this paper: Geminin deletion from hematopoietic cells causes anemia and thrombocytosis in mice.

As I understand it, this combination of symptoms is uncommon, and am looking for the human disease equivalent. In other words, what would the geminin-deficient mice be diagnosed with if they were human?

The only thing I'm coming up with using google is Iron deficiency, but I'm looking for things that have a genetic cause in the absence of obvious external factors.

Surely there must a myelodysplastic syndrome that describes this combination.
posted by kisch mokusch to Science & Nature (6 answers total)
 
Celiac disease, apparently.
posted by Sidhedevil at 4:41 PM on March 25, 2012


And myeloproliferative diseases also came up on my search.
posted by Sidhedevil at 4:42 PM on March 25, 2012


5q-syndrome (from a chromosomal deletion)

Vasculitis associated with rheumatoid arthritis

From a google scholar search of anemia and thrombocytosis
posted by sarae at 4:46 PM on March 25, 2012


Platelets are an acute phase reactant, so a high platelet count usually just means the body is dealing with some sort of inflammation or infectious immune response.
posted by gramcracker at 7:57 PM on March 25, 2012


Platelets are an acute phase reactant, so a high platelet count usually just means the body is dealing with some sort of inflammation or infectious immune response.

Yes, which is what is confounding the search. Thrombocytosis in inflammatory conditions such as celiac disease and rheumatoid arthritis can be considered as a predictable consequence of the underlying immune response. Which means they're not what I'm looking for. There are a number of genes that regulate the development of RBCs vs. megakaryocytes in the bone marrow, and a number of mutant mice that have an intrinsic propensity to make one at the expense of the other (the geminin paper is just one example). What I want to know is what the human equivalent would be called. Something like Essential Thrombocytosis combined with Refractory anemia.

The 5q-syndrome seems to fit the bill (I still need to research what causes the increased platelets), but I'm hoping there are more examples.
posted by kisch mokusch at 3:23 AM on March 26, 2012


When searching for thrombocytosis where the etiology is overproduction by megakaryocytes and usually genetic, one should search for Essential thombocytosis. As for the cause of 5q thrombocytosis and anemia. I've read that is caused by missing microRNA. I think this may be one the original papers on the topic.
posted by roguewraith at 8:00 PM on March 27, 2012


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