HomeAnswersInternal Medicinecalr mutationDo I need to worry on the detection of CALR exon 9 mutation?

CALR Exon 9 mutation is detected. Do I have to worry?

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

Medically reviewed by

Dr. K. Shobana

Published At April 30, 2018
Reviewed AtJanuary 30, 2024

Patient's Query

Hello doctor,

I am a 46-year-old male. A month ago, I had a heart stroke and underwent angio for blood clotting thrombus. My CBC report at that time shows a platelet count at 24 lakhs. I received CALR Exon 9 mutation analysis report today. It reads "CALR Exon 9 mutation is detected by PCR amplification of Exon 9 of CALR, followed by sequencing of coding and junctional region of the Exon. The sequence is compared with the reference sequence NM-004343 for the analysis of mutations." Hematologist prescribed me Anagrelide 0.5 mg. Do I have to worry? Can it be cured by medication?

Hello,

Welcome to icliniq.com.

You have very high levels of platelets which are called 'primary thrombocytosis' or 'essential thrombocytosis', which was confirmed by CALR Gene mutation test. This condition will results in either clots or sometimes bleeding in any part of the body.

There are few treatment options available to control the disease, Anagrelide is one of them, which is supposed to be taken along with Aspirin. Please consult a hematologist who will monitor the condition and give you treatment.

Please discuss with the hematologist if you can be tried on Hydroxyurea instead of Anagrelide which is a better drug.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Mohammed Parvez
Dr. Mohammed Parvez

Internal Medicine

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