Thrombophilic risk factors in women with recurrent abortion

Abstract

Objectives: The aim of this study was to determine the thrombophilic risk factors and their frequency among women with history of recurrent abortion and a detected thrombophilic defect. Materials and methods: In this study, 41 women with history of recurrent abortion, who have one or more detected thrombophilic defects including protein S, protein C, antithrombin deficiency, activated protein C resistance (APC-R), factor V Leiden (FVL), prothrombin G 20210A (PTG), methylenetetrahydrofolate reductase (MTHFR) C677 T gene mutation, antiphospholipid antibodies and elevated levels of factor VIII were retrospectively investigated. Results: The most common detected thrombophilia defect (53.7%) was MTHFR gene mutation. While 22 of 41 patients (53.7%) had more than one concomitant defect, 20 of them had two concomitant defects and the remaining had three defects. Conclusion: MTHFR gene mutation, alone and/or with, concurrent thrombophilic defects was the most frequent factor for hereditary thrombophilia among our patients with a history of recurrent abortion.

Keywords

• thrombophilia; clinical thrombophilia, recurrent abortion, factor V Leiden gene mutation, actived protein-C resistance, methylenetetrahydrofolate reductase gene mutation, prothrombin G20210A gene mutation, protein C deficiency, protein S deficiency; anti

Tekrarlayan düşük yapan kadınlarda trombofilik risk faktörleri

Öz

Amaç: Bu çalışmada, tekrarlayan düşük nedeni ile hematoloji polikliniğine başvuran ve en az bir trombofilik defekt saptanan kadınlarda trombofilik risk faktörleri ve sıklığını değerlendirmek amaçlanmıştır. Gereç ve yöntem: Bir ya da daha fazla trombofilik defekt (protein S eksikliği, protein C eksikliği, antitrombin, aktive protein C direnci (APC-R), faktör V Leiden (FVL), protrombin G 20210A (PTG), metilentetrahidrofolat redüktaz (MTHFR C677 T) gen mutasyonları, antifosfolipid antikorları (antikardiyolipin antikoru IgM ve IgG, lupus antikoagülanı) varlığı ve Faktör VIII yüksekliği) ve tekrarlayan abortus öyküsü olan 41 olgu geriye dönük olarak araştırıldı. Bulgular: En sık saptanan trombofilik defekt %53.7 MTHFR 677T mutasyonu idi. Kırk bir hastanın 22'si (%53.7) (n:22; 20 ikili, 2 üçlü defekt) birden fazla defekti aynı anda birlikte taşımaktayken, 20'si aynı anda iki, geri kalanı üçlü defekte sahipti. Sonuç: Hasta grubumuzda MTHFR gen mutasyonu tek ve/veya diğer trombofilik faktörlerle kombine olarak, tekrarlayan abortuslu hastalarda en sık rastlanan herediter trombofili etkeni olarak saptandı.

Anahtar Kelimeler

• trombofili; klinik trombofili, tekrarlayan abortus, factör V Leiden gene mutasyonu, aktive protein-C direnci, metilentetrahidrofolat redüktaz gen mutasyonu, protrombin G20210A gen mutasyonu, protein C eksikliği, protein S eksikliği, antikardiolipin a

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