Factor V‐Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia

• Published in: American journal of hematology 2004-07, Vol.76 (3), p.307-309
• Main Authors: Fawaz, Naglaa A., Bashawery, Layla, Al‐Sheikh, Iman, Qatari, Ahlam, Al‐Othman, Sara S., Almawi, Wassim Y.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Anemia, Sickle Cell - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Child; Diseases of red blood cells; DNA Mutational Analysis; Factor V - genetics; Female; Hematologic and hematopoietic diseases; Heterozygote; Homozygote; Humans; hypercoagulation; Male; Medical sciences; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Middle Aged; Mutation; Prothrombin - genetics; risk factors; Saudi; Saudi Arabia; sickle cell disease
• ISSN: 0361-8609; 1096-8652
• DOI: 10.1002/ajh.20087

The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females). The prevalences of factor V Leiden (P = 0.174) and PRT G20210A (P = 0.397) were not different between patients and controls, thereby giving no support to an association of either single‐point mutation with SCD. However, an increased prevalence of the MTHFR 677 T/T genotype was seen among patients (8/87) compared to controls (4/105), but this was not statistically significant (P = 0.217; OR = 2.56). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of SCD and/or its complications. Am. J. Hematol. 76:307–309, 2004. © 2004 Wiley‐Liss, Inc.