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Indian Journal of Hematology and Blood Transfusion

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01-10-2020 | Thrombosis | Original Article

JAK2V617F Mutation in Patient with Splanchnic Vein Thrombosis

Authors: Narender Kumar, Saniya Sharma, Jogeshwar Binota, Jasmina Ahluwalia, Neelam Varma, Shano Naseem, Ishwar Chand, Varun Uppal, Saroj K. Sinha

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 4/2020

Abstract

Splanchnic vein thrombosis is an uncommon life-threatening form of venous thrombosis. It is one the common complication among MPN’s. In the western studies the prevalence of JAK2V617F mutation among SVT patient is high and ranges from 7 to 59%. The frequency of this mutation among Indian SVT patients is heterogenous. This was a prospective case control study. A total 52 cases of SVT and 40 controls were screened for JAK2V617F mutation along with other routine thrombophilic risk factors. Out of total 52 cases, 10 had BCS, 2 had MVT and rest 40 were of PVT/EHPVO. The JAK2V617F mutation was seen in two cases and not in controls. Among the thrombophilic markers, heterozygous FVL mutation, PC, PS and presence of APA were seen in 2, 3, 1 and 3 cases respectively. In addition, eight cases also showed deranged risk factors (5 inherited and 3 acquired), however the repeat testing was not performed due to loss of follow up. Among controls, one person showed presence of APA and one person showed multiple thrombophilic risk factor deficiency. JAK2V617F mutation was observed in 3.8% among north Indian SVT patients. The frequency of mutation is on the lower side as compared to the available Indian data. The other thrombophilia markers (both inherited and acquired) are more frequent (18%) and patients should be routinely screened for these thrombophilia markers.

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Title: JAK2V617F Mutation in Patient with Splanchnic Vein Thrombosis
Authors: Narender Kumar
Saniya Sharma
Jogeshwar Binota
Jasmina Ahluwalia
Neelam Varma
Shano Naseem
Ishwar Chand
Varun Uppal
Saroj K. Sinha
Publication date: 01-10-2020
Publisher: Springer India
Keyword: Thrombosis
Published in: Indian Journal of Hematology and Blood Transfusion / Issue 4/2020
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-020-01292-x

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