Inherited bleeding disorders: a 14-year retrospective study.

Congenital bleeding disorders comprise a heterogeneous group of diseases that reflect abnormalities of blood vessels, coagulation proteins, and platelets. A 14-year retrospective study (1991-2005) was conducted for patients referred to the coagulation section of the Hematology Department (King Hussein Medical Center, Amman, Jordan), who had suffered from bleeding tendencies to assess the prevalence of bleeding disorders among Jordanians and to describe their clinical manifestations. Four hundred and three patients matched our criteria. All patients were screened with routine coagulation assays and a complete blood cell count; a factor assay was performed if indicated by the results of the screening assays. A total of 168 patients (41.6%) were diagnosed with a bleeding disorder caused by a factor deficiency, of which 17.1% were described as hemophilia A (n=69), 6.2% were described as vWD (n=25), and 4.2% were described as hemophilia B (n=17). A subset of the total patient population comprising 14.1% of the patients were diagnosed with a Rare Inherited Coagulation Deficiency (RICD), where 4.0% were FX deficient (n=16), 3.7% were FVII deficient (n=15), 3.7% were FV deficient (n=15), 2.5% were FXI deficient (n=10), and 0.2% were diagnosed with afibrinogenemia (n=1).

Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR G677A among 594 thrombotic Jordanian patients.

Venous thromboembolism develops as the result of multiple interactions between non-genetic and genetic risk factors. In order to estimate the frequency of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in Jordanian thrombotic patients, we studied 594 patients admitted to the King Hussein Medical Center for thrombophilia assessment. Polymerase chain reaction detected 25.7% (20.7% heterozygous, 5% homozygous), 6% (5.8% heterozygous, 0.2% homozygous) and 31.7% (25% heterozygous, 6.7% homozygous) for factor V Leiden, prothrombin G20210A and MTHFR C677T mutations, respectively. A one-stage clotting assay was used to measure prothrombin activity. None of the prothrombin G20210A mutant patients had high prothrombin activity. The high prevalence found among our study group of factor V Leiden and prothrombin G20210A confirms the importance of thrombophilia screening for patients with venous thrombosis with family history and those with additional risk factors. On the contrary, the high prevalence of the MTHFR C677T mutation among arterial thrombosis patients shows its importance in screening in arterial thrombosis patients. These results, which are close to the prevalence found by other studies in the region, suggests that the Eastern Mediterranean region is probably the area of origin of these mutations, especially factor V Leiden. The knowledge of these frequencies in the Middle East region through population-based studies will contribute to a better understanding of the interaction between genetic and environmental risk factors underlying the mentioned mutations.