Title:The Association between Parameters of Erythrocytes Morphology and
Thrombophilia-related Mutations
Volume: 17
Issue: 1
Author(s): Ozlem Oz*Ataman Gonel
Affiliation:
- Department of Medical Genetics, Harran University, Sanliurfa, Turkey
Keywords:
MTHFR C677T, factor 13, erythrocyte morphology, thrombophilia, mutation, arterial thrombosis, venous thromboembolism.
Abstract:
Background: Alterations in erythrocyte morphology parameters have been identified
and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes
are abundant in thrombus content. Their hemoglobin density and differences in the ratio of
macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history
of thrombosis.
Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters
and thrombophilia genetic parameters.
Methods: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of
thrombosis were included in the study. % MIC, % MAC, % HPO, % HPR and all hemogram parameters
were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR
A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-
PCR.
Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden
mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in
58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29%
of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood
cell (RBC) and hematocrit (Hct) values were higher in Factor 13 mutant group; the Hgb and Htc
values were higher in the MTHFR C677T mutant group. The plateletcrit (PCT) and platelet (PLT)
values were lower in MTHFR C677T mutant group.
Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and
Hgb, RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history
of thrombosis.
