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.     

Occupational Health in Lebanon: Overview and Challenges

Abstract

This paper discusses the challenges facing the field of occupational health in Lebanon following 15 years of war. It examines the opportunities for advancing this field and for bringing Lebanese standards up to par with internationll ones. Challenges include the minor contribution of industry to the overall economy, its perception as non hazardous, the lack of standards and enforcement, the scarcity of data, and the obscurity of occupational health on the national agenda. Opportunities, on the other hand, have arisen from the need to rebuild the infrastructure and revive tourism, public awareness of the potential hazards of industries in densely populated areas, international pressure, and the return of professionals in occupational health. The safety and salubriousness of workplaces are perceived as minor concerns in Lebanon, yet desire for economic recovery may prove to be an incentive for increased action on this issue. Three potential approaches for action are presented.     

Beta-thalassaemia intermedia in Lebanon

Approximately one third of thalassaemia patients on record in Lebanon have thalassaemia intermedia. We have analysed three factors in a panel of 73 patients with this less severe form of the disease in our population: mild beta-globin gene mutations, deletions in the alpha-globin gene and the presence of a polymorphism for the enzyme Xmn I in the Ggamma-promoter region. The results show that the most important contributing factor is the beta-genotype: 68% of patients have a mild beta+ mutation (IVSI-6, cd29, -88 or -87), while 26% of patients are positive for the Xmn I polymorphism associated with increased production of HbF, which showed strong linkage to particular mutations (IVSII-1, cd8 and cd30). However, the genotype phenotype correlation is difficult, because many patients were initially misdiagnosed as thalassaemia major and were started early on regular blood transfusions, which was stopped later on. This illustrates well the importance of an early accurate diagnosis of thalassaemia intermedia for appropriate clinical management.     

BRCA1 and BRCA2 Mutations in Ethnic Lebanese Arab Women With High Hereditary Risk Breast Cancer

Purpose.

Breast cancer is the most common malignancy among women in Lebanon and in Arab countries, with 50% of cases presenting before the age of 50 years.

Methods.

Between 2009 and 2012, 250 Lebanese women with breast cancer who were considered to be at high risk of carrying BRCA1 or BRCA2 mutations because of presentation at young age and/or positive family history (FH) of breast or ovarian cancer were recruited. Clinical data were analyzed statistically. Coding exons and intron-exon boundaries of BRCA1 and BRCA2 were sequenced from peripheral blood DNA. All patients were tested for BRCA1 rearrangements using multiplex ligation-dependent probe amplification (MLPA). BRCA2 MLPA was done in selected cases.

Results.

Overall, 14 of 250 patients (5.6%) carried a deleterious BRCA mutation (7 BRCA1, 7 BRCA2) and 31 (12.4%) carried a variant of uncertain significance. Eight of 74 patients (10.8%) aged ≤40 years with positive FH and only 1 of 74 patients (1.4%) aged ≤40 years without FH had a mutated BRCA. Four of 75 patients (5.3%) aged 41–50 years with FH had a deleterious mutation. Only 1 of 27 patients aged >50 years at diagnosis had a BRCA mutation. All seven patients with BRCA1 mutations had grade 3 infiltrating ductal carcinoma and triple-negative breast cancer. Nine BRCA1 and 17 BRCA2 common haplotypes were observed.

Conclusion.

Prevalence of deleterious BRCA mutations is lower than expected and does not support the hypothesis that BRCA mutations alone cause the observed high percentage of breast cancer in young women of Lebanese and Arab descent. Studies to search for other genetic mutations are recommended.     

Major depression and external stressors: the Lebanon Wars

This article examines the effect of war events and pre-war depression on the prevalence of major depression during war. A total of 658 subjects aged 18-65 years were randomly selected from four Lebanese communities differentially exposed to the Lebanon Wars and were interviewed using the Diagnostic Interview Schedule (Arabic version). The individual levels of exposure to war events were assessed through a War Events Questionnaire. The lifetime prevalence of the DSM-III-R-defined major depression varied across the four communities from 16.3 to 41.9%; the final parameters predicting major depression since the onset of the wars were: depression before the wars and exposure to the wars. Both, individual levels of exposure to war and a history of pre-war depression, predict the development of depression during war. Received: 5 June 1997 / Accepted: 14 July 1998     

The impact of war on the physical and mental health of the family: The Lebanese experience

This paper addresses the impact of war-related stressful life events on the health of families living through the war conditions prevailing in Lebanon for the past 12 years. Health outcome is represented by indicators of somatization, depression, psychological symptoms, interpersonal relations and marital relations. Associations are described between elements of war stress and the health outcome variables for mothers, fathers and adolescents in a sample of Beirut families. The role of the mediating factors of social support and social class is also discussed.