Impact of Factor V Leiden G1691A, MTHFR C677T, and Prothrombin G20210 A mutations on the development of neonatal thrombosis

Mokhtar Ahmed, Ahmed; Risha, Amr I.; El-Taher, Ahmed K.; Abdelhy, Rabab M; M. AbdElmonem, Doaa

doi:10.21608/zumj.2022.137019.2564

Impact of Factor V Leiden G1691A, MTHFR C677T, and Prothrombin G20210 A mutations on the development of neonatal thrombosis

Document Type : Original Article

Authors

¹ Clinical Pathology department. faculty of medicine, zagazig university

² paediatrics department. faculty of medicine, zagazig university

³ Department of General Surgery, Zagazig University Hospitals, Zagazig, Egypt

⁴ Radiology department zagazig University egypt

⁵ Department of clinical pathology, faculty of medicine, zagazig university

10.21608/zumj.2022.137019.2564

Abstract

ABSTRACT
Background: Neonatal thrombosis is a rare disorder usually develops because of underlying conditions in the neonatal period, such as thrombophilia gene mutations, sepsis, congenital heart disease and surgical interventions or intravascular catheters.
Objective: The goal is to look at the prevalence of neonatal thrombophilia and its risk factors among neonates admitted to the Neonatal Intensive Care Unit (NICU).
Patients and methods: A cohort research that took place in neonatal ICUs in Zagazig University Hospitals from January to December 2021. Forty patients were involved. Patients were given a thorough medical history, clinical, neurological examinations, laboratory routine tests and Screening for thrombophilia gene variants by RT-PCR using the Vienna Lab Diagnostics GmbH's (FVL, PTH and MTHFR Strip Assay) ® A kit (Vienna, Austria).
Results: Concerning factor V gene mutation (G1691A) there was 6 (15%) had mutations, four of them (10%) showed heterozygous and two (5%) showed homozygous s mutations while 34 (85%) were normal. Nine (22.5%) patients had mutation of prothrombin G2010A gene with five (12.5%) of them were heterozygous and four (10%) were homozygous while 31 (77.5%) were normal. As regard MTHR C677T, 10 (25%) were normal, 23 (57.5%) had heterogeneous and 7 (17.5%) showed homozygous mutations. There was statistically significant increase in D-dimer and the presence of the Factor V (G1691A) and prothrombin G20210A while it was non-significant as regard mutations of MTHFR C677T.
Conclusion: Neonatal thrombosis is a critical condition. Its incidence increased with the presence of homozygous thrombophilia gene mutations especially with surgical intervention or venous catheterization.

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