Evaluation of Thrombophilia Profile in Northern Pakistan: Frequency and Presentation

Abstract

Objective: This study aims to ascertain the prevalence of thrombotic disorders and thrombophilia profile among patients in Northern Pakistan.
Study Design: Cross sectional descriptive study.
Place and Duration of Study: This study was conducted at the department of hematology, Shifa International Hospital, Islamabad, Pakistan from 1st June 2024 to 31st July 2025.
Materials and Methods: Ethical approval was obtained from the Institutional Review Board (IRB) prior to commencement of the study. The sample size was calculated using the WHO sample size calculator, considering a confidence level of 95% and anticipated prevalence of 2.5%. Non- probability consecutive sampling technique was employed. Data were collected using a structured proforma and analysed using SPSS version.
Results: Out of the 926 patients, there were 256 patients with portal vein thrombosis (PVT) (27.6%), 192 with stroke (20.7%), 160 with Deep vein thrombosis (DVT) (17.2%), mesenteric thrombosis 124 (13.3%) and 94 with Pulmonary embolism (PE) (10.1%) remaining 100 were presented with minor thrombotic episodes. Thrombophilia profiles revealed that 368 patients had protein S deficiency, 298 had anti-thrombin deficiency, 146 had protein C deficiency, and 114 patients had an activated protein C resistance. A total of 50 thrombotic disorders patients underwent molecular testing, out of which 10% were heterozygous for the Factor V Leiden
mutation. 2% were homozygous for the Prothrombin (Factor II) mutation, and 88% did not exhibit any mutation.
Conclusion: According to this study, Protein S and anti-thrombin deficiencies are the most common deficiencies among thrombotic disorders patients in northern Pakistan. The prevalence of undetected site thrombosis, such as PVT, was higher than reported globally.