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Thrombophilic gene mutations in cases with recurrent miscarriage : A study in the Egyptian Population

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

Sahlab, Samir H., Mussttafa, Nagib Z., Shams-El-Din, Ahmad A.

Authors

Abou-El-Atta, Nilli Nader

Accessioned

2017-07-12 06:41:21

Available

2017-07-12 06:41:21

type

M.D. Thesis

Abstract

Thrombophilia by definition represents acquired and/or genetic conditions that predispose patients to both venous and arterial thromboembolic events. Thrombosis is the most common cause of death worldwide. On the arterial side, myocardial infarction and stroke result in significant morbidity and mortality. Venous thromboembolic events most commonly involve the deep veins of the lower extremity with potential complications of pulmonary emboli. Pregnancy is a hypercoagulable state, and thromboembolism is the leading cause of antepartum and postpartum maternal mortality. Recent attention has focused on certain inherited thrombophilic factors that may predispose to arterial and/or venous thromboses and their possible association with pregnancy complications, including early pregnancy loss. These include a group of mostly autosomal dominant, inherited gene mutations leading to a hypercoagulable state, such as factor V Leiden G1691A, factor II or prothrombin G20210A, and hyperhomocysteinemia associated with Methylenetetrahydrofolate reductase C677f mutation. With the identification of genetic risk factors, there has been synergistic amplification of thrombotic risk when one has an abnormal gene (e.g., factor V Leiden) plus environmental issues (e.g., pregnancy). The results of our study suggested that PTH & MTHFR mutations are associated with recurrent pregnancy loss but not FVL mutations.

Issued

1 Jan 2008

DOI

http://dx.doi.org/10.21473/iknito-space/36555

Details

Type

Thesis

Created At

28 Jan 2023