Macrothrombocytopenia and Thalassemia minor

Dear Thals,

I wanted to share some studies and papers in an attempt to contribute with some info to this forum.  Unfortunately, I do not have the full studies nor have the medical knowledge to go in depth.  Hopefully more knowledgeable members can contribute with analysis.

Firstly it is important to note that high MPV (mean platelet volume) in addition to typically  low MCV and MCH are a very good indicator of thalassemia minor as suggested by this study:

http://www.ncbi.nlm.nih.gov/pubmed/4074887

Then I would like to bring your attention to these 2 studies that talk about “X-linked thrombocytopenia with thalassaemia trait” (XLTT) as it relates to gene mutations

http://www.ncbi.nlm.nih.gov/pubmed/14691578

http://www.orebroll.se/sv/uso/Forskning/Publicerat/Presentationer-och-postrar/Ovrigt/2010/GATA-1-mutation-R216Q-increased-bone-marrow-angiogenesis-and-reticulin-fibrosis-in-X-linked-thrombocytopenia-with-thalassaemia-trait-XLTT/?Email=bWFpbHRvOm1hcmlhLmJlcmdtYW5Ab3JlYnJvbGwuc2U%2FcmVjZWl2ZXJuYW1lPU1hcmlhIEJlcmdtYW4%3D

Lastly, here is a a link to a good coverage of all macrothrombocytopenias including mention of thalassemia minor for those that want to go deeper

http://royalkumari.com/hematology/Platelets/PltsOther/blre/111blre06.pdf

I hope some members find these studies useful and the more advanced members can contribute with analysis of the texts as well as the implications.

As for me, I seem to have a platelet count in the low range with high MPV and my father from whom I inherited Thalassemia has had severe nose bleedings as a child which suggests low platelet numbers.  Down the road, I will investigate the thalassemia-platelet connection in more detail by further analysis of my own platelets for any deviations.

Cheers