PathWays Case Study: April 25

​A 60-year-old woman presented with 2 years of progressive transfusion-dependent anemia. CBC was as follows: Hb 10.4 g/dL (ref 12-15.5), MCV 94.8 fL (ref 81.6-98.3), RDW 17.7% (ref 11.9-15.5), WBC 4.4x109/L (ref 3.5-10.5), Plt 135x109/L (ref 150-450), reticulocytes 4% (ref 0.77-2.36). Erythropoietin was 55.9 mIU/mL (ref 2.6-18.5), and ferritin was 199 mg/L (ref 11-307). The clinician ordered a bone marrow biopsy and myeloproliferative neoplasm workup. The following calreticulin variant was identified by fragment analysis (Figure 1) and next generation sequencing (Figure 2).

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Jadee Neff, M.D., Ph.D.
Fellow, Molecular Genetic Pathology
Mayo Clinic



Rong He, M.D.
Consultant, Division of Hematopathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Sciences



April Josselyn is a Marketing Channel Manager at Mayo Clinic Laboratories. She has worked at Mayo Clinic since 2012. Outside of work, April enjoys the outdoors and being "hockey mom" for her two sports-crazed boys.


Over one year ago I was told my platelets were low and it continued to drop down to 78,000. I started on b-12 shots and got blood test every month watching the levels go up and down. Last month they dropped again to 98,000. The doctor can not tell me why it goes up and down. I have had MRI of my abdomen ultra sounds . I am not anemic my spleen is 25% inlarged. They wanted to go bone marrow biopsy but could not tell me what it would tell him so I suggested we waited and the testing each month would go up but then down. I font understand why they font know the cause. They reassure me I don’t have cancer. My hetmetologis is someone my doctor recommended but he us moving to a different location do I’m going back to my regular doctor who is a nephrologist. I’m just confused and would like to know why it drops then goes up . My normal was around 170,000 before I was told it dropped below 100,000 and continued to drop to belie 80,000 in just s few months. Omg first thought was medicine but no one thinks that us the cause I even went yo the pharmacy and asked if the would check under “rare” side effects but the said needs should not be the problem, Can you give me and answers thank you for listening

I’m 71yeats old woman over weight weigh 315#
Can hardly walk due to sciatic

Hi Wanda, unfortunately, we cannot make specific treatment or testing recommendations through this correspondence. If you would like to seek help from Mayo Clinic, please call one of our appointment offices (Arizona: 800-446-2279 Florida: 904-953-0853 Minnesota: 507-538-3270). Thank you.

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