Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc
Journal website

Case Report

Volume 6, Number 4, October 2017, pages 105-108

Two Novel Monoallelic Calreticulin Mutations in a Patient With Essential Thrombocythemia


Figure 1.
Figure 1. The two types of calreticulin mutation identified in this study. Arrow indicates the position of the deletion. The arrowhead indicates the A>T nucleic acid change, in forward sequence at position c.1102, and in reverse sequence at the original c.1136 position. In forward direction already the nucleic acid change can be seen: by the arrow the normal sequence is TTAAG, the deleted sequence should be GGAGG, what means that at position 91 (at the arrowhead, c.1102) should be only an A, instead of an A/T. The reverse direction confirms that the nucleic acid change is on the deleted allele.
Figure 2.
Figure 2. The resulting calreticulin protein sequence of a wild type, the most common 52-bp deletion (type I mutation, p. L367fs*46) and the patient sample.