Hereditary thrombophilia in ethnic omani patients

Abstract

Hereditary thrombophilias are a group of inherited conditions that predispose to thrombosis. Mutations like factor V Leiden, prothrombin gene variant 20210A, and hereditary hyperhomocysteinemia are associated with an increased risk for thromboembolism as compared to mutations in natural inhibitors of coagulation. There is also evidence that multiple defects co‐exists in persons with a tendency for thrombosis. We studied prothrombotic determinants, namely protein C, protein S, and AT along with factor V Leiden (1691G→A), prothrombin gene mutation (20210G→A), CBS 844ins68 mutation, and MTHFR mutation (677C→T) in consecutive ethnic Omani patients with first episode of a thrombophilic event, namely, deep vein thrombosis (DVT), and/or pulmonary embolism (PE) or thrombosis at an unusual site. Fasting plasma homocysteine was also analyzed. Factor V Leiden and the prothrombin gene mutation were not seen in any patient nor in any control subject studied. The thermolabile MTHFR mutation (677C→T) was present in 14 patients (35.89%) whereas the CBS 844ins68 mutation was documented in 6 patients (15.38%); 3 patients were common in both groups. Six patients had low protein C (15.38%), two patients had low protein S (5.12%), but none had low AT levels. Interestingly, one patient had triple abnormality, namely, PC deficiency with both CBS 844ins68 mutation as well as the MTHFR mutation (677C→T) whereas another two patients had the latter two mutations together. This data set, although small, reflects the importance of multiple screening strategies. The yield appears high, emphasizing the referral pattern to a tertiary health center. Of these patients, 43.58% had either or both the hyperhomocysteinemic mutations studied, whereas in 38.46% of these patients, no underlying cause for thrombophilia could be documented. Am. J. Hematol. 81:101–106, 2006. © 2006 Wiley‐Liss, Inc.

Factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T are not associated with coronary artery disease and type 2 diabetes mellitus in western Iran

“…Factor V Leiden and the prothrombin gene mutations are the most common genetic factors associated with increased risk of deep venous thrombosis [1]. The pathogenic role of local thrombotic occlusion in coronary arteries at the site of a ruptured plaque has been clearly demonstrated [2].…”

Triple thrombophilic simultaneous mutations in patients after bariatric surgery: is there a role for screening in the Eastern Mediterranean?

“…However, MTHFR and CBS 844ins68 along with protein C deficiency were important risk factors. More importantly, 56.4% of these cases had either one or a combination of these three mutations [ 5 ]. Multiple studies have evaluated the role of FV Leiden in the risk of VTE.…”

Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs

“…[1][2][3][4][5][6] It is present in a high number of Caucasians, 1,4,6,7,[10][11][12][13][14][15][16][17][18][19][20] but it is very rare in other ethnic groups. 7,17,[20][21][22][23][24][25] Few studies on Arabs showed that the prevalence of FVL was 0-27% in different Arabic countries, [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] being as low as zero in countries like Saudi Arabia, 7,29,40 Oman 34 and Yemen, 27 whereas being relatively very high (27%) in Palestinians (Israeli Arabs). 27 Kuwait is one of the Arabic countries, which is geographically locate...…”

“…The prevalence in Kuwaitis was closer to values reported in Saudi Arabia, Oman, Bahrain and Yemen (0-3%), which are geographically present in the Arabic peninsula like Kuwait. 7,27,29,34,40 The other non-Kuwaiti Arabs included in this study were from Syria, Jordan, Palestine and Egypt, which are geographically present fairly away and toward the northwestern part of the Arabic peninsula (in the eastern part of the Mediterranean Sea). The results for our non-Kuwaiti cases were similar to the values reported by other studies on Arabs from the previously mentioned Eastern Mediterranean Arab countries.…”

“…[26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] These reports revealed remarkable variations in the prevalence of FVL in Arabs, being absent in some Arabs (like Saudis and Yemenite), while being present in as high as 27% of other Arabs (like Lebanese and Palestinians or Israeli Arabs). [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] In our previous study, we found FVL in 15.75% of Arab patients with VTE and in 2% of healthy Arab controls, which was lower than the reported figures for Arabs. 26 However, our previous study was based on conventional PCR and restricted fragment length polymorphism techniques.…”