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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).

Thrombophilia is now considered a multi-causal condition, with interplay of acquired genetic risk factors. In order to estimate the frequency of the factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in the Jordanian population, we screened 200 healthy Jordanian individuals. 40% were females. Mean age was 32.1 years for males and 30.0 years for female participants. A PCR method detected 15.0% factor V Leiden (87% heterozygous, 13% homozygous), 2% prothrombin G20210A (100% heterozygous), and 24% MTHFR C677T (67% heterozygous, 33% homozygous). We conclude that the prevalence of factor V Leiden and MTHFR C677T is elevated in this population of Jordanians. However the incidence of G20210A is relatively low. Quantification of these genetic thrombosis risk factors in various populations will contribute to a better understanding of the interaction of genetic and environmental risk factors.

Hereditary thrombophilia is caused by various inherited disorders. Most lead to a familial tendency to recurrent venous, not arterial, thrombosis, usually at a young age, and with spontaneous onset. Most of the genetic defects known today affect the function of natural anticoagulant pathways, in particular, the protein C system. In this study, 602 (265 female, 337 male) patients with suspected thrombosis, arterial or venous, were referred to King Hussein Medical Center in Amman, Jordan. The prevalence of hereditary deficiencies of antithrombin (AT), protein S (PS), and protein C (PC) were studied over a seven-year period (1993-2000). Activated protein C (APC-R) resistance subjects were studied over four years (1996-2000). The mean age was 30 years in females and 42 years in males. A diagnosis was established in 22.4% (n = 135) of the subjects (20.3% venous, 2.1% arterial). Protein C deficiency was found in 3.8%, protein S deficiency in 2.3% and antithrombin deficiency in 1.4% of our sample group. An APC-R problem was seen in 23.0% (n = 89) of the surveyed population. Out of the APC-R patients, 75.0% had the DNA analysis of a factor V Leiden mutation present. Of the subjects found to have the mutation 87.0% were heterozygous and 13.0% were homozygous. These results confirm that APC-R, as a result of factor V Leiden mutation, is the most prevalent cause of thrombosis, and thrombophilia is related to venous, not arterial, thrombosis.