Diagnostic pathway for the investigation of thrombocytosis

Abstract

Additional Supporting Information may be found in the online version of this article:Fig S1. Forward DNA sequences of the region surrounding RHAG codon 65. All sequences represent genomic DNA except for the cDNA sequence from patient II:1 (right lower panel). Right middle panel genomic sequence II:1 (S/S in red italics) was from the RHAG exon 2 PCR amplicon produced with oligonucleotide primer "I3R1," which encompasses intronic SNP rs9473627 (c.22956G>C; 29% minor allele frequency).

The Birth and Death of Platelets in Health and Disease

“…Causes that have recently been comprehensively reviewed include autoimmunity (see below) (3,42,52), chronic liver disease (79), thrombotic thrombocytopenic purpura (88), hemolytic uremic syndrome (41), and other forms of thrombotic microangiopathy associated with critical illness (e.g., sepsis, malignant hypertension), pregnancy, hematopoietic transplant, and cancers (66). An equally broad range of disease processes has been linked to the often rapid and usually transient increase in platelet count associated with reactive thrombocytosis, including infection/inflammation, tissue damage (e.g., major surgery), hyposplenism, iron deficiency, hemolysis, and a variety of drug treatments (30,31). The consistently elevated rate of platelet production diagnostic of essential thrombocythemia is typically associated with myeloproliferative neoplasms.…”

Experience of Myeloproliferative Neoplasms Guidelines in the United Kingdom: Perspective and International Context

“…First, the process was clarified to note that BCR-ABL1 testing should be performed in all patients to ensure a diagnosis of chronic myeloid leukemia was excluded. 6 The second development was because of the discovery of new mutations. In the process of evaluating a patient for ET, acquired mutations in the CALR gene supported the clonal nature of the disorder.…”

How we diagnose and treat essential thrombocythaemia

“…The BCSH (Harrison et al , , , ) and World Health Organization (WHO) (Swerdlow ; Tefferi et al , , ) guidance for the diagnosis of ET are based on haematological, histological and clinical parameters but there are some important differences in the application and interpretation of different elements, as discussed below. We place particular emphasis upon excluding a potential case of chronic myeloid leukaemia.…”