Sickle cell disease: the Lebanese experience.

Sickle cell disease (SCD), the commonest single gene disorder worldwide, is an inherited disease that has different clinical and hematological manifestations in different populations. The objective of this study is to describe the characteristics of the Lebanese SCD population. This was a retrospective study that included information on 387 patients with either sickle cell anemia (SS) or sickle beta-thalassemia (ST). The mean (+/-SD) age was 17.9 years (+/-12.5), and the mean (+/-SD) follow-up was 9.3 +/- 6.9 years. Fifty percent of the patients were males and SS/ST distribution was 3 : 1. The disease was clustered in two geographic areas in North and South Lebanon. Nearly, all patients were Muslims and 56% were the offspring of consanguineous parents. The prevalence of splenomegaly beyond 6 years of age among SS patients was 28.9%. The prevalence rates of stroke, leg ulcers and priapism were 4.1%, 1.4%, and 0.8%, respectively. Comparing the SS and the ST patients, there were no statistically significant differences in the prevalence of all clinical manifestations except for splenomegaly (SS: 28.9%, ST: 54.9%, P-value < 0.001) and splenectomy (SS: 16.1%, ST: 35.7%, P-value < 0.001). In contrast to Northern American populations and similar to some Mediterranean populations, Lebanese SCD patients have a higher prevalence of persistent splenomegaly. The relatively low incidence of thrombotic complications deserves further investigation. The study's limitations include those of any other retrospective study and the fact that not all Lebanese centers caring for inherited hemoglobin disorders were included. However, the results of this first large scale national survey indicate that preventive efforts should target the Northern and Southern regions of Lebanon to decrease the number of new off springs afflicted with this disease similar to what has been successfully achieved with Thalassemia, another hemoglobinopathy that is highly prevalent in the country.

Genetic thrombophilia in patients with VTE in eastern Mediterranean located tertiary care center; is it time to change the algorithm for thrombophilia work up decision making?

BACKGROUND: Genetic thrombophilia work up performance is subject to debate because of the utility of the information it provides regarding prognosis of recurrence of venous thromboembolism (VTE) and guidance of duration of therapy with anticoagulation. Certain algorithms have been locally developed to guide decision making process to increase the yield of thrombophilia work up. These algorithms are not based on locally derived data. Data from the Eastern Mediterranean area (Lebanon) have shown high prevalence of thrombophilia mutations. Therefore the aim of this study was to describe the experience of a tertiary care center in thrombophilia work up among patients diagnosed with VTE. METHODS: A retrospective chart analysis of the cases diagnosed with pulmonary embolism or deep venous thrombosis with radiological confirmation. RESULTS: A total of 133 patients' charts were reviewed, 27 patients had thrombophilia work up performed, 56% had heterozygous MTHFR mutation, 44% were heterozygous for the Factor V Leiden mutation and 3.2% were found to have Factor II heterozygous mutations, and a total of 33.3% of patients had more than one genetic mutation. The common causes of provoked VTE were 59.53% malignancy, 22.64% post surgery, 12.98% bed ridden patients, and 4.85% oral contraceptive pills. Only 14% of patients with a malignancy who presented with VTE where receiving prophylactic heparin. DISCUSSION: Doubly heterozygous prothrombotic genetic mutations are commonly present among Eastern Mediterranean patients with VTE. A prospective study to determine the predictive (negative and positive) power of the currently followed algorithm for genetic thrombophilia work up remains of significant importance. Stressing the favorable role of VTE prophylaxis among patients suffering from malignancies remains a target for raising awareness among oncologists.