The inherited hemoglobinopathies are a large group of disorders that include the thalassemias and sickle cell diseases. The hemoglobin disorders are the most common single gene disorders encountered in the region and in the Kingdom of Saudi Arabia. The hemoglobinopathy genes occur with a variable frequency in different regions of the Kingdom. Genetic screening is an important tool to control and prevent genetic disorders. The aim of this study was to estimate the frequency of hemoglobin disorders among the Saudi population at Jeddah, in western Saudi Arabia. A total of 7,584 candidates were screened, divided into two groups. Group I: The general population, 6,750 unrelated Saudi adult volunteers of both sexes (5,050 males, 1,700 females). Group II: Cord blood samples of 834 Saudi neonate (422 males, 412 females). Our results showed the prevalence of sickle cell trait was 5.4%, (-thalassemia trait 4.69%, Hb E trait 0.85% and 1 (0.12%) of 834 neonates screened had sickle cell anemia. The prevalence of alpha-thalassemia in this study was 40.0%. The outcome of this study indicated that the Saudi population in this area is at risk for hemoglobin disorders. Screening programs are essential and should be implemented in the prevention program as a routine practice.

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The successful introduction of the tyrosine kinase inhibitors has revolutionized the treatment of patients with chronic myeloid leukemia (CML). Imatinib mesylate drastically improves survival in CML. Patients achieving a major molecular response within 12 months of treatment experience longer cytogenetic remission. Resistance to imatinib represents a clinical challenge. Changes in the levels of BCR-ABL transcripts are predictive of response or relapse. Vigilant monitoring of a patient's response to current treatment is imperative to the management of CML. Early identification of treatment failure may increase the probability that therapy will be effective. For patients with primary or secondary imatinib resistance or intolerance, dasatinib or nilotinib may be prescribed. Novel targeted agents have been designed to overcome imatinib resistance, including bosutinib and INNO406. These agents have demonstrated activity in patients harboring imatinib-resistant mutants, except for the T315I substitution. Other approaches are exploring new drugs with different mechanisms of action. Several trials are ongoing, with the aim of improving on standard imatinib 400 mg/day therapy, including imatinib combination therapy, and results are controversial. In multicenter studies, investigators are trying to assess the superiority of dasatinib and nilotinib as front-line therapy, in terms of higher 12-month complete cytogenetic response, major molecular response rates and fewer progressions.

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Background: The clinical importance of the serological markers in NHL is based on their role in staging, prognostic assessment and in monitoring NHL patients pre- or post-treatment. Objective: To assess the correlation of CA-125 with the clinical and pathologic features of NHL. To evaluate its role in the staging, follow up of patients, monitoring of treatment and whether it has independent predictive value on survival of patients. Patients and methods: Serum levels of CA-125 were determined in 50 patients with NHL. Serum samples were obtained from all patients at diagnosis, during chemotherapy and at remission. Thirty age- and sex-matched healthy individuals were included as a control. Results: The serum levels of CA-125 were significantly increased when compared to the control group (P<.05) with 48% patients having levels above the median. The high values were significantly associated with stage III-VI disease. The event-free survival (EFS) was significantly highest in the group with low sCA-125 (76.9%) versus 52.5% in the group with the high levels. The EFS was even better when both sCA-125 and LDH were low. Conclusion: sCA-125 might be employed to aid in diagnosis, staging and prognostic assessment of NHL. It can be used not only in monitoring the response to primary therapy, but also in planning treatment duration. It has independent influence on the survival of patients as proved by the Cox proportional hazard test. Combination of both sCA-125 and sLDH could improve the prognostication of patients.

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The prevalence of recurrent fetal loss and its relationship to sharing of human leukocyte antigens within couples was examined in a large, ethnically homogeneous Saudi population in Riyadh. Out of 300 couples, HLA-antigen sharing, at one or more loci, was detected in 225 of the cases (75%). A comparison of HLA antigen sharing in patients with history of primary abortion versus patients with secondary abortion, revealed that HLA-sharing at the A-locus was higher among the primary abortus patients (65.2%) as compared to secondary aborters (57.9%). The same trend was observed at the DR-locus (76.1%) for primary aborters versus (68.4%) for secondary aborters, but the difference between these prevalence rates was not statistically significant (P . 0.05). HLA-sharing at the B-locus was greater in the secondary aborters (52.6) as compared to primary aborters (43.5%). Analysis of HLA-CW6 and CW7, as forming a protective layer on the extra-villous cytotrophoblast, in the control and patient group showed interesting findings. More patients with unexplained fetal loss lack both antigens (41.5%) as compared to 33.3% in the control group. On the other hand, a very small number of the patients (5.7%) have both antigens present as compared to 33.3% in the normal-child bearing group. These studies provide substantial support for the role of recessive genes linked to the major histocompatability complex in the pathogenesis of recurrent spontaneous abortion.

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Background: Blood transfusion may be associated with adverse events in recipients. The current incidence of non-infectious complication of blood is unknown.This study aimed to investigate the reporting system for recognized transfusion reactions, and the type, cause and clinical outcome of these reported errors. patients and Methods: This cross-sectional study performed in all hospitals in Shiraz from 23 September 2008 to 23 September 2009. The nurses filled out a questionnaire that consisted of demographic characteristics, the type of blood product, the time of occurrence of transfusion reaction, patient symptoms and signs, the type of reaction, and the modalities performed for managing the patient and the severity of any reactions. The number of units of blood transfused was recorded for estimating the risk of adverse events when the transfusion reaction occurred. Results: Of 86 849 blood units transfused, 100 adverse reactions were reported (0.01%). Most (90.9%) patients had a history of previous transfusion. The most frequent symptoms observed were urticaria, dyspnea and fever. The most frequent reaction was major allergic reaction and next was febrile nonhemolytic transfusion reaction. The largest proportion of adverse reaction's (43%) occurred in patients aged less than 19 years of age. Conclusion: The rate of transfusion reaction was lower than that of other studies, showing the deficiency in distinguishing and reporting of these events. It seems that implantation of a hemovigilance system to improve reporting of transfusion reaction mortality and morbidity and the effect of new procedures on it, is essential

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Currently, there are several lines of evidence of the interplay between coagulation and inflammation in the propagation of various disease processes, including venous thromboembolism (VTE) and inflammatory diseases. The vitamin K antagonists (VKAs) such as warfarin have been the standard treatment of thromboembolic diseases for over 60 years. However, the level of anticoagulation with VKAs is frequently outside the therapeutic range, potentially compromising safety and efficacy because of the food/drug interactions, and other variables. These limitations have prompted development of new oral anticoagulants that target Factor IIa or Factor Xa and that are given in fixed doses without routine anticoagulation monitoring. Major advances in the development of oral anticoagulants have resulted in considerable progress towards the goal of safe and effective oral anticoagulation that does not require frequent monitoring or dose adjustment, and has minimal food/drug interactions. Indirect inhibitors of factor Xa and factor IIa such as low-molecular-weight heparin (LMWH) and the pentasaccharide fondaparinux represent improvements to unfractionated heparin/for acute treatment of VTE, constituting a more targeted anticoagulant approach, with predictable pharmacokinetic profiles and no requirement for monitoring. The VKAs, with their inherent limitations in terms of multiple food and drug interactions and frequent need for monitoring, remain the only oral anticoagulant approved for long-term secondary thromboprophylaxis in VTE. Newer anticoagulant drugs include oral direct thrombin inhibitors (dabigatran), oral direct factor Xa inhibitors (rivaroxaban, apixaban, and others), and tissue factor/factor VIIa complex inhibitors that have been "tailor-made" to target specific pro-coagulant complexes, and have the potential to greatly expand oral antithrombotic targets for both acute and long-term treatment of VTE, and for the prevention of stroke in atrial fibrillation patients.

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Background: The diagnosis of acute myeloid leukemia (AML) is enhanced by identification of antigens that are expressed in the cytoplasm and/or on the surface of myeloblasts. Anti-CD117 monoclonal antibody is useful in the immunophenotyping of acute leukemia cells that are committed to the myeloid lineage regardless of the subtype. The proteolytic cleavage of this cell surface receptor results in soluble CD117. Materials and methods: We have investigated the diagnostic and prognostic role of sCD117 in Saudi patients with AML. Detailed immunophenotyping of the bone marrow blast cells of 20 patients was performed by flowcytometry, and the serum c-kit level was measured using the ELISA assay. Results: CD117 surface expression showed no significant correlation with sCD117, but there was a significant elevation of sCD117 pre-chemotherapy and a significant decrease post-chemotherapy. Conclusion: sCD117 was had good diagnostic value for early AML cases and a prognostic value post-chemotherapy. This suggests the usefulness of sCD117 as a tumor marker in AML patients.

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Background: ADAM-TS 13 activity targets a cleaving sequence in von Willebrand factor (vWF). Deficiency of ADAM TS 13 leaves the vWF intact causing intravascular platelet aggregation which manifested clinically as TTP. Many tests have been developed to measure ADAM TS 13 activities and autoantibodies. A new rapid assay had been developed. It involves the incubation of patient plasma samples with a source of vWF for indirect measurement of the residual factor. Materials and methods: We tested 14 patient samples who presented with classical clinical picture of TTP by two methods, the new rapid method with a standard reference method based on SDS agarose. Results and Conclusion: There was good concordance between the new method and the referenced method. The obtained r2 value was 0.98. The new method is valid and useful in clinical management of TTP and can be used as a follow up marker for detecting relapse.

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Acquired inhibitors of coagulation are antibodies that either inhibit the activity or increase the clearance of a clotting factor. A common clinical manifestation in an affected patient is a hemorrhagic diathesis. Antiphospholipid antibodies represent a different problem as these antibodies prolong certain clotting assays but result in thrombosis rather than bleeding. We describe a patient with an initial presentation of deep venous thrombosis, found to be secondary to antiphospholipid syndrome (APS), which is well known to be a hypercoagulable state. However, her clinical presentation changed to a bleeding disorder, as she developed hematuria; that was only manageable with immunosuppressive medications. Patients with APS should be warned about probable bleeding. Antiprothrombin antibodies should be looked for if the patient continues to bleed in spite of stopping anticoagulant therapy. Immunosuppressive medications are successful in the correction of prolonged coagulation assays and in treating the bleeding clinically.

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