Abstract
Thromboembolic complications have been well documented in HbE thalassemia Patients. Thrombophelic complications may be either due to genetic factors, hemostatic abnormality or due to hepatic dysfunction. The main objective of this study was to search for the actual cause of thrombophelic complication and to estimate the overall frequency of Protein C, Protein S, APCR, ATIII and MTHFR (677 C-T and 1298A-C) polymorphism in HbE-thalassemia patients. Protein C, protein S, APCR and ATIII were measured in 50 HbE thalassemia patients and 35 controls while MTHFR polymorphisms were studied in 40 HbE thalassemia patients and 35 controls. Levels of Protein C, Protein S, APCR and ATIII were reduced in 14%, 32%, 8% and 46% of HbE-Thal patients respectively and 677het*(CT), 677hom**(TT), 1298het(AC), 1298hom(CC) were 7.5%, 2.5%, 22.5% and 10% respectively. These were more frequent in older Splenectomized patients in comparison to non spelenectomized patients When the values were compared with those of controls Protein C, Protein S and ATIII showed the significant difference(P=0.001) while APCR, 677CT, 677TT, 1298AC, 1298CC showed nonsignificant difference (P= >0.05). However APCR showed significant difference when splenectomoized patients were compared with controls(P=0.01) and non splenectomized patients(P=0.03). Hepatic dysfunction as evidenced by Serum transaminase level of more than 55 IU/L and Serum albumin level less than 3g% were present in 7(14%) patients. Serum Ferritin >1000 ng/ml was observed in 7(14%) patients. Protein C and Protein S showed no correlation with Iron overload and Hepatic dysfunction, however ATIII showed significant correlation with hepatic dysfunction and APCR showed significant correlation with Iron overload. Clinically evident thrombosis was detected in 8(16%) patients. One Patient had recurrent pulmonary thromboembolism, one had developed Portal vein thrombosis Two had Cerebral vascular thrombosis and four had Deep Vein Thrombosis. Six of them were splenectomized. Although APCR and MTHFR Polymorphisms were not significant when compared with controls, two patients developed Deep vein thrombosis due to APCR while one patient having portal vein thrombosis was found to be homozygous for 677C-T. It is evident from this study that genetic factors and haemostatic alterations along with hepatic dysfunction and iron overload play a role in the development of thrombotic complications in HbE-thalassemia patients. * het = heterozygous, **homo =homozygous.
Features of Thrombotic Patients Siteof thrombosis Ferritin(ng/ml) SGPT/Alb (IU/l/g %) Pro.C (%) Pro.S (%) APCR(%) ATIII(%) MTHFR polymorphism *= Low level, **= Normal level, DVT=Deep Vein Thrombosis, PVT=Portal Vein Thrombosis, PTE=Pulmonary Thromboembolism, CVT=Cerebral vascular Thrombosis PVT 690 48/3.8 78** 60** 140** 98** 677TT(homo) DVT 1200 50/4.4 75** 58** 80* 110** Negative CVT 754 26/3.6 50* 45* 160** 40* Negative DVT 1000 60/2.1 39* 64** 110* 92** Negative DVT 490 45/4.8 38* 40* 200** 89** Negative DVT 1400 35/3.4 78** 49* 129** 60* Negative CVT 489 29/3.7 80** 40* 130** 70* Negative PTE 645 58/2.8 46* 39* 130** 82* Negative
Successful medical management of acute mesenteric ischemia due to superior mesenteric and portal vein thrombosis in a 27-year-old man with protein S deficiency: a case report
